Al pha1Foundati on 20172018 ProgramsReport
Table of Contents Community Engagement .............................................................................................. 5 Educational Material .................................................................................................................. 5 E-Education Library ................................................................................................................... 7 E-Communications .................................................................................................................... 9 Alpha-1 Foundation Website & Communications .................................................................... 11 ALPHA-1-To-One Magazine.................................................................................................... 15 Building Friends for a Cure ...................................................................................................... 17 Special Events ......................................................................................................................... 19 Public Policy, Advocacy and Access/Reimbursement ............................................................ 23 Alpha-1 Global ......................................................................................................................... 34 Patient Support Network .......................................................................................................... 54 Educational Scholarships ........................................................................................................ 60 Emergency Relief Fund ........................................................................................................... 60 Oxygen Travel Assistance Program ........................................................................................ 61 National Education Series ....................................................................................................... 62 National Education Conference ............................................................................................... 65 Alpha-1 Kids & Young Adults .................................................................................................. 70 National Awareness ................................................................................................................. 72 Genetic Counseling Program .................................................................................................. 81
Detection & Research ................................................................................................. 87 Alpha-1 Research Registry...................................................................................................... 87 Family Testing / Testing Days ................................................................................................. 89 Alpha-1 Coded Testing (ACT) Study ....................................................................................... 91 Nurse Practitioners & Respiratory Therapists ......................................................................... 92 Clinical Resource Centers ....................................................................................................... 94 Continuing Education for Physicians ....................................................................................... 96 Meetings, Conferences and Events....................................................................................... 100 Grants and Awards Program ................................................................................................. 105 Childhood Liver Disease Research and Education Network (ChiLDREN)............................ 110 Alpha-1 Liver Initiative ........................................................................................................... 111 NCATS Fellowship................................................................................................................. 112 DNA and Tissue Bank/LTRC ................................................................................................. 113
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The Alpha-1 Foundation has continued on a trend of success in 2017, with increased engagement, enhanced education programs, expanded legislative and regulatory advocacy and an ongoing commitment to representing the best interests of the Alpha-1 community. We strive to exceed expectations as we lead the quest to find better treatments and a cure for Alpha-1 through clinical and research programs, innovative educational programs, enhanced partnerships and an improved infrastructure to push these programs forward. As always, our achievements, large and small, make profound differences in the lives of the Alphas and families we serve. Excellence is never static. This year we have been able to connect with more Alphas across the globe, increasing our reach worldwide. Our shared commitment to tackling challenges together has been a unifying force and a catalyst for community triumphs. It takes patience and sustained effort to see the effects of investing in research. Philanthropic investment in science catalyzes progress. Robust collaboration between donors, scientists, and clinicians frequently leads to productive breakthroughs that can dramatically change the trajectory of an Alpha’s life. With an investment of more than $65 million to support Alpha-1 research and programs, the Alpha1 Foundation is committed to funding only the best research in Alpha-1 Antitrypsin Deficiency. Throughout the Foundation’s history, donors, partners, researchers and Alphas have worked side-byside with us to build stronger, more engaged communities across the world. Thanks to those that have invested in our mission, we haven’t stopped. Only with increased generosity from donors and industry partners, can the Foundation have the resources needed to sustain the level of programming needed to serve the Alpha-1 community and be able to revolutionize research and healthcare for Alphas in the United States and internationally. The Alpha-1 Foundation continues to maintain as well as enhance and grow those critical programs that drive its mission of finding a cure for Alpha-1 Antitrypsin Deficiency and improving the lives of people affected by Alpha-1 worldwide. Through dedication to this mission, the Foundation has fostered an informed, educated and cohesive community of patients, caregivers, families and healthcare professionals. The strength and support of our community, volunteers, researchers, clinicians and corporate partners enables the Alpha-1 Foundation to continually push the boundaries of detection, research, advocacy, learning and support to make a profound difference in the lives of Alphas across the nation and all over the world through the Alpha-1 Global program. In order to enrich advancements and successes in these areas, the Foundation continues to be guided by a Strategic Plan that defines its goals and directs its strategies while ensuring proper decision making and allocation of resources. The Plan is continually evolving and requires input from everyone in the Alpha community. This allows the Foundation to continue to raise the bar; enhancing current programs and pursuing new initiatives.
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Below are the strategic goals to which we strive.
Find a cure and promote development of new therapies. Effectively educate and communicate information to the worldwide Alpha community.
Mission
Reduce the impact of Alpha-1 through support, education and participation.
Promote appropriate diagnosis and the continuum of healthcare of all Alphas.
Maintain access to care and influence the regulatory process
This report details strategic goal-related accomplishments within the Alpha-1 Foundation. You will read about the depth and scope of the Foundation’s work—differences made, milestones achieved, and successes celebrated. These achievements were not attained alone; rather, it was the result of collective action, generous investment and firm commitment from our funders. Through all of these pieces, there is an important, common thread: together, we are making lasting impact on the community we serve. With a year of great successes, the Foundation also suffered a great loss. On March 7, 2017, John W. Walsh, our co-founder and leader for more than 20 years passed away surrounded by his loving family. His creation of a research foundation and a patient services organization for people with Alpha–1 Antitrypsin Deficiency led to today’s highly successful and influential Alpha–1 Foundation and AlphaNet. Over the past two decades, John built a worldwide reputation for the Foundation that was far greater than its size. Alphas, researchers and clinicians, and leaders of industry and government around the globe considered him the central figure – the best-known and most influential leader – of the Alpha–1 community. In 2004, John Walsh founded and became the first president of the COPD Foundation. In 2013, he launched the platform for Alpha-1 Global, to bring the tools and guidance for patient advocacy, support and shared strength to achieve increased awareness, detection and access to care for Alphas and Alpha1 patient groups around the world. John’s vision has led us to where we are today; poised and ready to continue to push the Foundation’s mission forward. His legacy brings forth the excitement to move onward and expand our programs - for the cause is still a fire burning brightly in our hearts. We are grateful to so many wonderful people who 3|Page
have shared the vision with us and become passionate advocates for Alphas and the amazing partners we have that help transform their lives. Our financial resources, coupled with the support of employees and organization, is the groundwork that enables the Foundation to deliver the programs that bring value to our stakeholders; i.e. Alphas and their families, scientists and physicians, industry and government. The Alpha-1 Foundation is pleased to provide the following program report and funding opportunities for your consideration in making your funding decisions. With your generous support, we will be able to continue to deliver the full scope of our programs and services this fiscal year. Thank you for supporting the Alpha-1 Foundation and for your commitment to improving the future of Alphas everywhere.
Note: Activities outlined in this proposal may be subject to change based on funding received. Budgets outlined for each program are estimated and may need to be changed to meet certain unanticipated program requirements.
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Community Engagement At the Alpha-1 Foundation, Community Engagement is the process in which we build ongoing, permanent relationships that are focused on issues that impact the lives of those affected by Alpha-1. Since inception Alphas, family and friends have been active in voluntary leadership and raising awareness in their own communities. Our programs allow for us to identify, educate, engage and ultimately empower our Alpha-1 community members to make a difference, not only in their lives, but in the lives of Alphas everywhere. We have been successful in identifying relevant issues affecting Alphas and advocating for change, getting individuals involved in the support network, encouraging the community to come together and raise funds to support our mission, and in promoting participation in research studies to move us towards new therapeutic solutions and a cure. It is critical that our community knows we need their help and the avenues by which they can become and stay involved. Ensuring that our programs are able to facilitate such engagement among a diverse and growing community is vital to the continued success of the Alpha-1 Foundation.
Educational Material Educational materials on Alpha-1 provide validated medical information for physicians, medical professionals, individuals being tested and for all individuals and their families living with Alpha-1. The educational brochures are designed to increase knowledge and promote positive practices related to Alpha-1 testing, diagnosis and care among Alphas, their friends and families, those at risk for Alpha-1 and healthcare professionals. The materials are widely disseminated by the Foundation upon request through our website ordering page, email or over the phone; at patient and professional meetings; at all awareness and detection activities and via the AlphaNet On-Demand system. Educational information is a vital lifeline to individuals diagnosed with Alpha-1 Antitrypsin Deficiency and it is our goal to provide resources to help Alphas and their families lead a more positive and healthy life.
Accomplishments The Foundation continues to provide information to various audiences in our community, including patients and their families, Alpha-1 parents and healthcare providers. Efforts this year included the following: •
Total distribution has increased by over 60% to 61,450 brochures. Individual requests for brochures in addition to an increase in continuing education conferences for healthcare providers have contributed to that increase.
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The top three most requested brochures are: • • •
What is Alpha-1? Healthcare Provider’s Guide Guide for the Recently Diagnosed 5|Page
Approach The Alpha-1 Foundation will continue to evaluate the needs of the global Alpha-1 community, and answer those needs with consistently branded and translated materials. Fiscal year 2018 efforts will include the following: •
Revising appropriate brochures to ensure continued accuracy and alignment with the recently published Clinical Guidelines for the Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult. Revised brochures will be submitted to the Educational Materials Working Group for review and approval.
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E-Education Library For Alphas, learning about their diagnosis is the first step towards empowerment. The E-Education library is comprised of a variety of educational presentations given by Alpha-1 specialists on a range of different topics that are geared towards patients, family members and healthcare providers alike; thus broadening our reach into the community. It is comprised of over 420 presentations given at Education Days and National Education Conferences and also includes the Family Awareness series videos. The library of videos is promoted through various communications and via social media to ensure that the community is informed when new presentations are available to view and reminded of videos that are available from previous events. The E-Education library is also used as a tool for Support Group Leaders to educate those that attend meetings who are unable to travel to Education Days or to the National Education Conference. The library serves as a resource for Support Group Leaders to pull from when looking for educational components for their meetings. It allows them to have Alpha-1 experts available to them at the touch of a button as long as they have Internet access. The E-Education library is a valuable resource for the global community who accesses information and educational material through the videos available. After the United States, the United Kingdom, Canada, Australia, Ireland and Spain are the countries with the highest play rates on the videos. New Zealand, Netherlands, Portugal and Germany round out the top 10 countries watching videos in the E-Education library.
Accomplishments There are currently 421 videos in the E-Education library. Another 23 presentations were recorded at the 2017 Alpha-1 National Education Conference and will be added to the library, bringing the total to 444. During FY 2017, the E-Education library saw a total of 18,486 plays. As the Foundation’s website has experienced an increase in mobile users, there has also been a shift in devices used to view presentations as well. • • •
Desktop plays: 53% Mobile plays: 31% Tablet plays: 16%
The top three E-Education presentations viewed in fiscal year 2017 were: • • •
Alpha-1 and the Lung by Robert Sandblom, MD Basics of Alpha-1 Lung Disease by Jeanine D’Armiento, MD Basics of Alpha-1 Lung Disease by Robert Sandhaus, MD
While the Foundation links to all E-Education videos through its website, the videos are also linked as direct URLs in E-communications, through Facebook and via other social media outlets as well. The source URL statistics are outlined below: 7|Page
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Direct link – 73% Alpha1.org – 21% Facebook.com - 5%
Approach The E-Education library will continue to expand with the addition of all educational presentations that take place at Education Days and the Annual National Education Conference. Promotion of the E-Education program and library is made through electronic communications directly to the Alpha-1 Foundation’s mailing list as well as on the Foundation’s website. New presentations added to the library are shared on social media including the Foundation’s Facebook and Instagram. Older presentations are also shared through social media to encourage viewing of important topics. The videos are categorized on the Foundation’s website in the following sections to make it easier for viewers to find videos that suit their educational needs: • • •
By Event By Speaker By Topic o Advocacy o Children and Alpha-1 o Genetics o Getting involved o Liver o Living with Alpha-1 o Lung o Nutrition o Oxygen o Pulmonary rehab and exercise o Research o Transplantation
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E-Communications The Alpha-1 Foundation’s E-Newsletter, Community Currents, is a monthly newsletter that keeps the Alpha-1 community and volunteer leadership up to date on Alpha-1 related news, research, programs and engagement opportunities. The wide distribution of this E-Communication to all emails on the Foundation’s mailing list allows us to inform our readers on how they can contribute to the Alpha-1 Foundation’s mission by consistently highlighting current initiatives and efforts on a local and national level. The newsletter always includes a calendar of events, important website stories and social media posts and is used to solicit participation in various activities. The Support Group Leader Networking and News email communication is used to distribute updates on a number of different topics, community initiatives and training content to volunteer leaders.
Accomplishments This year Community Currents had an average open rate of 20%. The E-Communication strategy included: • • • •
Distribution of Community Currents to all emails in our database Specific highlights of important, timely issues to the Alpha-1 community Highlighting the mailing of each issue of the ALPHA-1-To-One magazine Targeted standing sections in Community Currents to link readers to related news and initiatives on the website: o o o o o
Top stories Advocacy updates with links to the Action Center Links to E-Education videos, successfully increasing the utilization of the library Calendar of Upcoming Events – Support Group meetings, Education Days, Building Friends for a Cure events and Special Events Fundraising action items and Development initiatives
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Approach The E-Communication plan includes: •
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Utilizing electronic platforms that will increase our reach in both a broad and targeted fashion. This strategy will allow for new and continuing engagement opportunities within our community as it will reinforce existing information as well as deliver updates and new information to those already in volunteer leadership positions. Using E-Communications as a vehicle to communicate key and time sensitive Alpha-1 issues to our community and sending targeted messages through e-blasts when necessary. Highlighting sections of the ALPHA-1-to-One Magazine and promoting each issue as it is circulated by mail and published on our website. Circulating the Support Group Leaders Networking and News email to keep Leaders informed and current on various topics as well as utilize the Support Group Leader Portal to house key documents necessary to facilitate consistent and effective meetings.
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Alpha-1 Foundation Website & Communications The Alpha-1 Foundation website is one of the best tools available to provide information to Alphas, family members, the medical and scientific community and the general public. It is most commonly the first contact that newly-diagnosed Alphas and their family members have with the Alpha-1 Foundation, and in many cases, their first source of information about Alpha-1 Antitrypsin Deficiency. The website is updated nearly every day, often more than once, with information, news, upcoming events and personal stories of those living with Alpha-1. The section for healthcare providers offers physicians useful and authoritative guidance on diagnosing and treating Alpha-1, links to specialists for referral and consultation, and help explaining Alpha-1 to their patients. We continue to optimize the visitor experience on our website. By trending readers’ behavior, we can adjust menus, paths and visibility of highly searched items or steer the visitor towards an important resource or initiative. This is balanced with the critical need for repeat users to land on a site that is familiar. The rotator on the home page is a powerful tool to garner the visitors’ attention. We often use it to direct users to as many as four programs, but also take the opportunity to drive a single program. In 2017, the rotator was locked on a single image to let our community pay tribute to John W. Walsh. As the conference grew near, a banner was added to rotation that pointed the community to the registration page. In the same fashion, we continue to change the content of the homepage itself to drive traffic or address quick bounce rates from particular target audiences. In addition to the “Get tested” rotator image and program link, we added a “Testing for Alpha-1” section to the home page. This was in response to following the behavior of 23andMe clients. The website is also used to engage our community and to motivate further action to increase knowledge or move vital initiatives forward. Social media users are tracked to our site for the pertinent information. E-education, Alpha-1 Awareness Month activities and grassroots advocacy through the Action Center and event notices continue to deliver large audiences to our website for action. Accomplishments In 2017, there were 347,087 total visits to the website. The highest number of visits in a single month was experienced in March with 36, 735. Top five visited pages (page views): • • • • •
What is Alpha-1? – 134,382 Homepage (Alpha1.org) – 76,515 Lung Disease – 40, 335 Testing for Alpha-1 – 39,863 Liver Disease – 28,444 11 | P a g e
The technology our visitors use to view our site is also tracked. The use of mobile and handheld devices continues to rise and is certainly taken into account as determinations are made on new and innovative ways to reach audiences. In 2017, over half of the visits came from individuals not using a desktop or laptop computer: • •
Mobile: 45.81% Tablet: 9.52%
Social Media The Alpha-1 Foundation aims to stay current in using social media and technology to reach our community. Social media continues to be the #1 driver (other than Google) of visitors to the website. The Foundation is on track to reach our 10,000th follower on Facebook this fall. Consistency has been essential to our social media approach. Posting several times a day and posting content that is relevant to our community and easy to understand has been a key factor. During fiscal year 2017, 365 Facebook posts received 15,624,574 views. Our most popular posts include awareness initiatives, basic testing information and relevant community news.
This year we added a new platform to the Foundation’s social media outreach - Snapchat. The audience has been steadily increasing. As of June 30, 2017, the Foundation’s social media audiences are: • • • • •
Facebook: 9,975 Twitter: 2,0123 Instagram: 1,159 LinkedIn: 598 Snapchat: 39
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Approach The Foundation will continue to analyze available data and use it to inform website content and the paths created in social media to drive traffic to pertinent information. The goal is to always meet or exceed the needs of the Alpha-1 community and to ensure the work done at the Alpha-1 Foundation can be used as resources to our visitors. The Foundation continues to build a strategy around optimizing reach to new or underserved target audiences. In the 2018 fiscal year, a concerted effort will be made to close gaps in that reach. 23andMe In April 2017, the FDA granted 23andMe approval to use a direct to consumer genome sequencing tool to determine whether the user was genetically predisposed to Alpha-1 Antitrypsin Deficiency and any associated risk based on the genetic variants identified. After tracking the direct links from the 23andMe report pages and the movement the individuals made on our site, it was clear that most individuals were leaving without sufficient answers to move forward in their journey with Alpha-1. The Foundation is working closely with the 23andMe senior product team to develop a landing page uniquely for 23andMe visitors with specific information for confirmatory testing, treatment, support, expert care and family testing. It is anticipated that the 23andMe client profile will be cause to fast-track our engagement strategy for a younger, more tech savvy and largely asymptomatic patient population. Podcast The ALPHA-1-To-One Podcast is a monthly effort to educate Alphas, family, caregivers and healthcare providers through captivating personal stories of how people became involved in the Alpha-1 community and what motivates them to continue their work. The ALPHA-1-To-One Podcast will expand the Foundation’s existing media platform to a new audio medium that will interest existing readers of the ALPHA-1-To-One magazine, but most importantly, will reach a different audience who are searching for information about Alpha-1, but aren’t as inclined to read a magazine. The podcast will build on the success of the magazine and its brand equity within the community. Like the magazine, it will provide “Practical advice, personal experiences and pertinent news for people touched by Alpha-1,” with strong appeal to the next generation of the Alpha-1 community. The podcast is expected to launch in winter 2018.
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Photojournalism An “Alpha-1 Gallery” will be built as part of a larger photojournalism project at the Alpha-1 Foundation. The first “look” through the lens into the life of an Alpha was of Julie McNeil and her biological family. The project continued with Shane Fitch and her Alpha-1 son, professional surfer Arran Strong. We hope to launch initial content in the summer of 2018 and will use the campaign to bring awareness of Alpha-1 in a beautiful and unique way.
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ALPHA-1-To-One Magazine ALPHA-1-To-One magazine provides practical advice, personal experiences and pertinent news for people affected by Alpha-1. ALPHA-1-To-One is an excellent source of news and a successful support and education tool as well. Every issue of ALPHA-1-To-One spotlights a leading Alpha-1 researcher or physician, a community leader, an Alpha-1 family, or someone who played a vital role in our community. Three issues are produced each year and subscriptions are free.
Accomplishments ALPHA-1-To-One regularly runs a minimum of 28 pages and up to 36 pages, with 25,000 copies printed per issue. Magazine covers most recently featured: • •
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Henry R. Moehring, MBA, named Alpha-1 Foundation president and CEO World-class researchers at Boston University and the University of Massachusetts, who often collaborate while each is developing groundbreaking tools such as the first Alpha-1 lung model in a mouse, and an “open-source toolkit” for investigators to utilize and modify stem cells made from tissue donated by Alphas A celebration of the $50 million donated to the Foundation by AlphaNet over the last 20 years.
Popular features in every issue include updates on support groups and Alpha-1 Kids, an AlphaNet coordinator’s story and an extended, more detailed calendar of events. Each Clinical Resource Center receives a bundle shipment of magazines for patients in their practice.
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Approach This year’s three full-color issues will include: • • • • • • •
A tribute to John W. Walsh A listing of our 2017 research grant awardees and a summary of the funded projects Clinical Resource Center physicians as frequent contributors providing the answers to the regular Q&A feature “Ask the Alpha Doc” A review of activities at the 6th Alpha-1 Global Patient Congress in Lisbon and scientific conference and the goals driving the Alpha-1 Global program over the next two years An updated listing of “Alpha-1 studies now enrolling” providing research opportunities that community members may want to take part in Information on how to donate Alpha-1 affected tissue, including the possibility of donating an entire human body to research An overview of the Foundation’s advocacy efforts focused on keeping basic patient protections, including coverage for those with pre-existing conditions and reasonable costs for those with chronic health conditions
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Building Friends for a Cure A critical component of the Foundation’s strategic plan is raising awareness of Alpha-1 while providing tools to the community to raise funds to support research and related programs. Building Friends for a Cure (BFC) is an Alpha-1 Foundation program that does just that. This program is designed to broaden the reach of the Foundation and promote stronger links between the organization and the community. It provides the platform in which members of the Alpha community can help the Foundation work towards the goal of finding a cure. These events promote community interaction between Alphas, their friends and family, investigators, industry and medical professionals, including Clinical Resource Center physicians and staff.
Accomplishments Some of this year’s activities included three very successful events: • • •
Escape to the Cape - our largest ever bike trek Celtic Connection – the largest gathering of Alpha-1 family and friends outside of the National Conference Virtual Walk in November – promoting Alpha-1 Awareness month and encouraged 50 states to participate
The Building Friends for a Cure program allowed the Foundation to highlight the strength of our organization. Amidst changes taking place in our community, the Foundation maintained visibility and offered reassurance that we remain committed to our mission. Golf events and “Get the Scoop” ice cream social events continue to thrive and encourage the Alpha community to stay involved. Building on last year’s success, the Foundation plans to conduct another “Virtual Walk” during Alpha-1 Awareness Month this November encouraging our community to get involved no matter where they are. The Virtual Walk 2017 was launched at National Conference and continues to gain momentum. Building Friends for a Cure activities allowed for a record of over 4,400 individuals across the country to participate in events and fundraise for the Foundation.
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Approach The Alpha-1 Foundation offers monthly training calls with Support Group Leaders and individuals interested in community fundraising. Volunteers will learn the skills they need in order to organize and run their own fundraising event. We continue to promote our activities at Education Days, at the National Education Conference and through our research and industry partners. The Building Friends for a Cure Facebook page has grown to over 1,300 members and allows the community to highlight their success and encourage friends and family to engage in their activities. The Foundation’s BFC program also promotes community engagement and targets areas around Clinical Resource Centers (CRCs) in order to connect the medical community with the Alpha-1 community. This relationship helps to strengthen the CRCs as a local resource. The program generates a substantial amount of publicity in smaller markets that, in turn, creates opportunities to discuss the importance of testing and early diagnosis. In addition, participating Alphas are spokespersons to the media whenever possible and deliver the Alpha-1 awareness and detection message. This year, as part of a west coast outreach, two new activities have been added to the Building Friends for a Cure calendar. Jonathan Maidment, an Alpha from Connecticut, plans on hiking the Pacific Crest Trail in 2018. The Pacific Crest Trail is a long-distance hiking trail aligned with the highest portion of the Sierra Nevada and Cascade mountain ranges. The trail's southern end is on the U.S. border with Mexico, just south of Campo, California, and its northern end is on the U.S. and Canada border on the edge of Manning Park in British Columbia. The trail runs through California, Oregon, and Washington. Jonathan previously spent six months hiking the Appalachian Trail in support of our mission and raised considerable dollars and much awareness for Alpha-1. The Foundation plans on providing Jonathan with as much support as possible enabling him to meet his goal of finishing the hike, while promoting awareness of Alpha-1 and raising funds. Supporters will be encouraged to keep in touch with his campaign via social media.
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Another activity which will take place in early 2018 is an Alpha-1 “Let It Breathe” event. This wine tasting evening will be organized by Alpha’s in the southern California area. The event will help us garner support outside of our usual base. Other events scheduled to take place this year include: • • • • • • • • • • • • •
Celtic Connection (Boston, MA) Golf For A Cure (Jacksonville) George Washington Bridge Walk (NY/NJ) Hero Walk (Henrico, VA) th Step Forward for Alpha-1 (Iowa) - 10 Anniversary Bettina Irvine Memorial Golf Event at Greenwich Country Club (Greenwich, CT) Alpha-1 Walk and Ice-Cream Social (Denver) Escape To The Cape Bike Trek (Cape Cod, MA) Step Forward For Alpha-1 (Illinois) Step Forward For Alpha-1 (Florida) Alpha-1 Awareness Month – Virtual Walks across the country Hiking for a Cure for Alpha-1 – Jonathan Maidment Let It Breathe – Alpha-1 Wine Tasting Event
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Special Events The Alpha-1 Foundation’s special events have three primary purposes: to raise funds for programs and research, to create widespread awareness and to promote detection of Alpha-1. Events, like Celebration of Life, provide a wonderful opportunity to increase fundraising and encourage our loyal donors and volunteers to reach out to their contacts to continue to spread awareness while raising necessary dollars.
Accomplishments The 2017 Celebration of Life was a special evening that paid tribute to the Foundation’s Founder and past President, John W. Walsh. He was honored by friends from industry, donors, community leaders and Alphas on Sunday, April 30th and Monday, May 1st at Indian Creek Country Club in Miami Beach, Florida. The two-day format included the dinner reception on Sunday night and the annual Golf Classic on Monday. The tribute dinner joined friends to honor John and the legacy that he created for the entire Alpha-1 community. Gordon Cadgwan, Chairman of the Board, showcased a beautiful slideshow on John and expressed how his friendship touched so many, his vision changed the path for so many, and his tenacity saved so many lives. The State of Florida honored John’s family with a Resolution read by Dr. Robert Sandhaus that evening. The resolution was created to recognize the extraordinary contribution of John W. Walsh in the fight against Alpha-1 Antitrypsin Deficiency and remembering his life and legacy. The resolution made homage to the incredible work that John did for both the Alpha-1 and COPD communities. The event also honored AlphaNet for their longstanding commitment to the Foundation. AlphaNet was presented with an award for donating $50 million to support the Foundation’s mission over the past 20 years. Robert C. Barrett, President and CEO, along with Bob Greene, Chairman of the Board of Directors of AlphaNet, accepted the award and announced a special gift to be given in honor of John’s legacy. AlphaNet committed $225,000 to the John W. Walsh Translational Research Award to fund research for a cure.
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The Alpha-1 Foundation hosted a new fundraising event in Naples, Florida in March 2017. The event hosted over 75 Alphas, physicians and community members at the Naples Yacht Club for an evening of education and fundraising. Hosted by Naples residents and Alpha-1 Foundation supporters, Wendy Becker-Peyton and Casey Wolff, Esq., the evening provided a perfect vehicle to showcase the work of the Foundation’s mission. Dr. Robert Sandhaus was the keynote speaker of the evening.
This year the Alpha-1 Foundation hosted its Grant Awardees reception during the annual American Thoracic Society’s international conference in Washington, D.C. The Spy Museum hosted a record attendance of over 200 guests, including Alphas, physicians, researchers and industry partners to recognize the newly awarded grantees from around the world for their work in Alpha-1 and their role in our search for a cure. This event provides a platform for networking and collaborative conversation within our research community and a way to encourage new researches to get involved in our research agenda. Attendees also had the opportunity to honor our founder, John W. Walsh. The event began with a tribute to John by his twin brother Fred and his sister Susan, who encouraged the research community and our industry partners to remain focused on John’s mission to one day find a cure for Alpha-1.
Approach The Alpha-1 Foundation will again host their signature Celebration of Life at Indian Creek Country Club on Miami Beach on Sunday, April 29th and Monday, April 30th 2018. The event will include a dinner 21 | P a g e
reception and Annual Golf Classic overlooking the breathtaking views of Miami Beach. Each year the event has a theme to encourage participation and set an enjoyable atmosphere for guests. The Foundation will also be hosting additional fundraising events similar to the one held this spring in Naples, Florida. This fundraising cultivation model allowed the Foundation to share information on Alpha-1 awareness while raising dollars. The goal is to gather over 100 community leaders in selected regions of the country to continue to raise necessary dollars in the search for the cure. Chairpersons and venues are currently being determined. The Alpha-1 Grant Awardees reception will be held in conjunction with the American Thoracic Society conference on May 20, 2018 in San Diego. This event allows the Foundation to announce and showcase new grant awardees of our research program.
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Public Policy, Advocacy and Access/Reimbursement The Alpha-1 Foundation is fighting for critical Alpha-1 research, advocating for our community and promoting access to care and support at the state and federal level. We work diligently to make Alpha-1 a national priority by speaking out about the needs and rights of people with Alpha-1 and their families. The Foundation addresses the challenges that face our community ranging from diagnosis, treatment, research, cost of care, access to specialists, ensuring reimbursement and more. We have sought to provide policymakers, the public, and the media with sophisticated analysis about the effectiveness of government programs, the costs and benefits of various new approaches to dealing with the challenges facing the Alpha-1 community, and balanced appraisals of the social and economic conditions experienced by Alphas. The Foundation's Public Policy Program advocates on behalf of the Alpha-1 community by monitoring and influencing legislative and regulatory issues. The Foundation’s program is designed to identify and respond quickly to the issues outlined in our annual policy agenda. This year our community has responded to continued threats on funding for research and the development of new therapies to treat Alphas. The Foundation also continues to engage on behalf of Alphas to protect their access to adequate insurance coverage and maintain the patient protections implemented by the Affordable Care Act (ACA). Besides responding to emerging issues raised by Congress or the Administration, the Foundation continues to advocate on its longstanding policy priorities. Of primary concern is the stimulation of medical research, the development of new therapies, screening and detection, access to care and treatment, federal and state funding, blood product safety, education, awareness and the recognition of the special needs of individuals with Alpha-1 as the review and revision of the Affordable Care Act moves forward. These are just some of the ways the Foundation impacts the lives of countless Alphas and their families—and some of the reasons why we are such a respected voice in the public policy arena. This was evident during our participation in the Alpha-1 Patient-Focused Drug Development meeting with the Federal Drug Administration (FDA) in September 2015. The Foundation has continued to champion the rights of Alphas and their families with the ability to shine a spotlight on rare disease and escalate the urgency of our cause by advocating for strong, continued investment in healthcare issues, urging members of Congress to prioritize the needs of Alphas and those affected by rare and chronic disease and by collaborating with governmental organizations to influence policy and build momentum for issues affecting Alphas. This includes eliminating barriers to healthcare coverage, ensuring access to essential medications and therapies, raising awareness of patient needs and improving patient outcomes. The Access and Reimbursement Program is a central resource for information on access to care and reimbursement issues for Alphas who require assistance. It includes a Private Health Insurance Toolkit that educates and aids patients and their families in the selection of private insurance and a navigator who educates individuals on the Toolkit, serves as a point of contact for anyone who needs reimbursement or access to care assistance, aids in providing referrals to case management resources and initiates referrals to case management resources within both industry and the Alpha-1 community. The toolkit contains sections about patient assistance programs, reimbursement in government programs, managed care basics, billing, coding, prior authorizations, appeals grievances and more. 23 | P a g e
Accomplishments Accomplishments in the public policy and advocacy arena include: Research Issues: Basic and translational research into new therapies to potentially cure Alpha-1 or improve the quality of life for those affected is critical. The Foundation supports legislative and regulatory efforts to ensure Alphas have access to needed therapies, including access to clinical trials. We support the allocation of predictable funding for scientific research and drug development by the federal government and other sources. National Institutes of Health (NIH) • • • • •
Taking a co-chair position in the Coalition of Patient Advocacy Groups (CPAG) of Rare Disease Clinical Research Network, an initiative under the Office of Rare Disease Research (ORDR) at the National Center for Advancing Translational Sciences (NCATS) Representing the Alpha-1 Foundation on the Rare Lung Disease Consortium of the Rare Diseases Clinical Research Network, an initiative of ORDR, NCATS Planning for the 2018 Rare Lung Disease Consortia meeting Presenting at the NCATS Day – Partnering with Patients for Smarter Science Submitting appropriations comments to maintain or increase NIH funding
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COPD National Action Plan (CNAP) The COPD National Action Plan launched on May 22, 2017 and is the first blueprint for a unified fight against COPD (Chronic Obstructive Pulmonary Disease). Developed at the request of Congress with input from the broad COPD community, including the Alpha–1 Foundation and hundreds of Alpha-1 patients, it provides a comprehensive framework for action by those affected by the disease and those who care about reducing its burden. There was an initial Town Hall meeting at the National Heart, Lung and Blood Institute (NHLBI) in the winter of 2016. The Alpha-1 Foundation and community leaders were present in each of the working groups. The findings from that initial meeting resulted in a draft plan released. Despite our efforts, Alpha-1 was omitted from the document entirely. The Foundation immediately rallied the community and requested they provide input on the draft. The calls to action led to over 7,000 community members viewing and 253 actively responding to the content and stating the importance of including Alpha-1 in the CNAP. All these efforts proved successful. Alpha-1 is now included in the plan as the following excerpt shows: 1. Increase the effectiveness and variety of outreach communication campaigns and activities that utilize evidence-based approaches to raise awareness of COPD, particularly among those at high risk, and help people diagnosed with COPD manage the disease. • Include messages that focus on risk factors (e.g., smoking, environmental and occupational exposure, and genetic conditions like AAT deficiency). 2. Develop, in accordance with clinical quality measures, a clinical decision tree and other tools to enable high-quality care for people with COPD. • Improve ways to identify people at risk for or living with early COPD and promote the adoption of accurate diagnostic methodologies, including testing for AAT deficiency, as a national standard of care. 3. Develop and encourage the use of a written, patient-centric COPD management plan tool, with appropriate cultural and health literacy considerations, which can be customized with input from the patient’s health care provider(s). This plan should include the following: • Evidence-based resources that can guide provider and patient conversations, in part by featuring visual aids to help explain COPD, including the signs and symptoms and associated risks, such as exposure to tobacco, environmental and occupational factors, and genetic factors like AAT deficiency. 4. Enhance and optimize our capacity to collect and aggregate data from multiple sources, including at local, regional, and national levels, and turn them into actionable information. 5. Improve methods for earliest detection and diagnosis and develop effective strategies for preventing the onset and progression of COPD. • Develop and test models for detecting COPD that can be adapted and used in different healthcare settings and with diverse populations; these models will help identify and reach people at risk for COPD, including…those with AAT deficiency.
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6. Develop personalized medicine for COPD based on the pathogenesis and clinical heterogeneity. • Facilitate and encourage the translation of basic science COPD etiology and pathogenesis studies into epidemiology and clinical research involving patients with different COPD phenotypes. o Include the full spectrum of people with COPD, comprehensive of AATdeficient patient, in clinical studies. 7. Identify and publicize funding opportunities that advance the implementation of the COPD National Action Plan. • Increase the awareness and visibility of investigator-initiated research about COPD, including AAT deficiency 8. What are the Risk Factors Associated with COPD? • Genetics can also play a role in the development of COPD; people with a rare condition called Alpha-1 Antitrypsin (AAT) Deficiency are at an increased risk for COPD. 9. Organizations with an interest in the CNAP • The Alpha-1 Foundation - The Alpha-1 Foundation promotes research and the development of new therapies for improving the quality of life for those diagnosed with Alpha-1 Antitrypsin (AAT) Deficiency. The Foundation is committed to finding a cure for AAT Deficiency and improving the lives of people affected worldwide. www.alpha1.org 10. Glossary • Alpha-1 Antitrypsin (AAT) Deficiency is an inherited condition that raises the risk for lung and liver disease. AAT is a protein produced by the liver that protects the lungs. If the AAT proteins are not the correct shape, they get stuck in the liver cells and cannot reach the lungs. Some actions that took place regarding the CNAP include: • Continuing the Alpha-1 message from the National Heart, Lung and Blood Institute’s (NHLBI) Town Hall Meeting and ensuring Alpha-1 Antitrypsin Deficiency was included in the COPD National Action Plan (CNAP) • Providing recommendations for Alpha-1 related content in the plan at face-to-face meetings with NHLBI • Responding to a formal request for comments on CNAP and providing content to include in each of the associated goals in effort to ensure the plan benefits individuals with Alpha-1-related COPD and fosters diagnosis and future research • Participating in the CNAP launch plan press conference with the inclusion of Henry Moehring, CEO, on the launch panel held at the American Thoracic Society (ATS) annual conference in May 2017 26 | P a g e
Food and Drug Administration (FDA) •
• •
Facilitating meetings with both the Center for Drug Evaluation and Research (CDER) and the Center for Biologics Evaluation and Research (CBER) at the FDA to discuss clinical trial design in the Alpha-1 community and to collaborate on items of interest submitted as a follow-on document to the patient focused drug development meeting. Special attention has been paid to placebo use and adaptive clinical trial design required in a rare disease population. Meeting with CBER/CDER in collaboration with The Alpha-1 Project (TAP) investment recipients to discuss endpoints, protocols, Investigational New Drug (IND) amendments, placebo and power of related studies Submitting input on ongoing efforts to enhance mechanisms for patient engagement at the FDA and their consideration of establishing a new Office of Patient Affairs
Access Issues: Department of Health and Human Services (DHHS) •
• • •
Submitting formal comment on the Conditions for Coverage for End-Stage Renal Disease Facilities- Third Party Payment. Stated disagreement that further restrictions to a broader group of health care providers or premium assistance organizations would benefit patients. Requested that the Centers for Medicare and Medicaid Services (CMS) amend its existing policy allowing insurance companies to refuse third-party premium assistance from certain entities. Responding to Request for Information: Reducing Regulatory Burden Imposed by the Patient Protection and Affordable Care Act (ACA) and Improving Healthcare Choices to Empower Patients Working with coalition and industry partners to pass home infusion legislation Demonstrating criticality of plasma safety and supply through placement of a senior advocate on the American Plasma Users Coalition (A-PLUS)
Centers for Medicare and Medicaid Services (CMS) •
• •
Participating in a diverse working group to evaluate impact and potential solutions to the service disparity initiated with supplemental home oxygen competitive bidding program at CMS o Survey completed – over 2,000 responses allowed for identification, trending and prioritization of issues o Expert meeting convened to assess issues and provide potential solutions/next steps. Proceeds will be published in late 2017 Working to educate the payer community about the harm of restrictive formularies Writing to submit comments on the Notice of Benefit and Payment Parameters for 2018. Illustrating relevance of consideration of patients, access, and readiness by providing specific comments on: o Network adequacy o Out-of-pocket cost sharing o Discrimination prevention o Improvement of consumer assistance tool 27 | P a g e
•
Authoring a letter in response to 2018 Letter to Issuers in the Federally-facilitated Marketplaces and made further requests for: o Network adequacy – hepatologists and pulmonologists added to analysis of time and distance standards in order to ensure networks are sufficient for Alpha-1 patients o Discriminatory benefit design - Alpha-1 to be added to the list of conditions evaluated using the treatment protocol calculator o Prescription Drugs - augmentation therapies be added to the list of treatments for which adverse tiering will be examined o Third party payment of premiums and cost sharing - CMS to require plans to accept premium assistance from non-profit patient assistance organizations to ensure that people can maintain their health insurance and access to life-saving therapies
Department of Homeland Security/Department of Transportation •
Adding flying with oxygen to the agenda of the Supplemental Oxygen Working Group to ensure policies facilitate air travel for patients requiring oxygen in flight
Department of Veterans’ Affairs •
Supporting ATS hill day ask for backing of development of Burn Pit Center of Excellence in Prevention, Diagnosis, Mitigation, Treatment, and Rehabilitation of Health Conditions Relating to Exposure to Burn Pits and Order Environmental Exposures
Strategic Collaborations and other commitments •
Collaborating with strategic alliances in the rare-disease community to ensure the development and delivery of patient access tools and training 28 | P a g e
•
• • • • • • •
Meeting with the Office of Science and Technology Policy to discuss best practices in diagnosis, support, treatment and innovative research platforms in the rare disease community, with Alpha-1 as the example for sound processes in the Precision Medicine Initiative Participating on the Governing Board of COPD Patient-Powered Research Network (PPRN) Maintaining role in ATS Public Advisory Roundtable (PAR) to move patient centricity forward in the society Continuing partnership with the American Association for Respiratory Care (AARC) for patient access to services in pulmonary rehabilitation Forging a strategic relationship with AASLD as a stakeholder for quality standards in liver disease, diagnosis and treatment Taking a membership position on the Clinical Trials Transformation Initiative Steering Committee, with a goal to provide input and move innovative clinical trial design forward via creation and implementation of related guidance documents Continuing to engage with the National Health Council and other groups as we weigh in on policy developed around healthcare and innovation Participating in the Plasma Protein Therapeutics Association (PPTA) Annual Fly-In on Capitol Hill and holding position in PPTA Forum and Stakeholder meetings
Infrastructure • • • •
• •
• •
Utilizing a Patient Assistance Advisory Council to review, advise and foster communication between third party assistance administrators, funders and the Alpha-1 patient community Bringing webinar-based training to aid in grassroots efforts o Nearly 200 participants participated in webinars for “How to Tell Your Alpha-1 Story” and “How to Be an Alpha-1 Advocate” Conducting webinars and teleconferences for Medicare Open Enrollment and Marketplace Open Enrollment Manning the Access and Reimbursement info line for trends in healthcare needs: o Counselled over 234 Alphas and family members, doctors, medical and government personnel o Patient Assistance Programs; Co-pay and Premium Assistance; Medicare, Medicaid and Private Insurance; and Access to Care were among the topics most addressed Maintaining current matrix of patient assistance programs for Alpha-1 patients to use as a resource Advising National Education Conference attendees on current tools, tips for plan and program selection and providing case management for individuals in the midst of making insurance and/or access program decisions Trained over 60 participants at the community engagement forum on “How to Tell Your Alpha-1 Story” Utilizing an Action Center on Alpha1.org to facilitate grassroots community participation in calls to action for local, 29 | P a g e
state and federal legislation relevant to Alpha-1. Over 2,000 people visited to participate in alerts related to: o Home infusion o Healthcare o National COPD Action Plan o Genetic Non-discrimination o Out of pocket costs o Not for profit insurance assistance
Approach With focus on maintaining visibility and excellence in Public Policy, the Alpha-1 Foundation contracted with Cavarocchi, Ruscio, Dennis (CRD) Associates from Washington, DC and is exceedingly pleased with their service. Since 1980, CRD Associates has been helping organizations promote and protect their interests in the nation’s capital and will do the same for the Alpha-1 community. A robust strategy for promotion and engagement in grassroots advocacy is in implementation. Last year we drove action through social media and via an action center on our website. This year we will launch a grassroots advocacy platform using Voters’ Voice. We will capitalize on the sound structure of our support network and will onboard Alpha-1 Advocacy Ambassadors to help drive local, state and federal legislation necessary to move the Alpha-1 public policy agenda forward. We remain committed to battling the current structure of competitive bidding and the resulting profound loss of choice patients have for in-home and ambulatory oxygen provisions. The Alpha-1 Foundation will continue our work in the Supplemental Oxygen Working Group with the American Thoracic Society, the COPD Foundation and the organizations of the Rare Lung Disease Consortium to drive a concerted effort. We remain laser focused, educated and action oriented in addressing the ever changing state of healthcare and research funding policy. We will continue to collaborate with strategic partners and to engage CRD Associates and grassroots advocates to ensure the best possible outcome and solution based work occurs for the Alpha-1 community. Additionally, the following Public Policy agenda remains in place and continues to drive our activities: Research Issues: Basic and translational research into new therapies to potentially cure Alpha-1 or improve the quality of life for those affected is critical. The Foundation supports legislative and regulatory efforts to ensure Alphas have access to needed therapies, including access to clinical trials. We support the allocation of predictable funding for scientific research and drug development by the federal government and other sources.
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National Institutes of Health (NIH) •
The Foundation supports the highest attainable funding levels for the NIH and the National Heart, Lung and Blood Institute (NHLBI) specifically to advance scientific progress into research related to Alpha-1.
•
The Foundation will continue to advocate for the NHLBI to endorse a treatment algorithm for Alpha-1.
•
The NHLBI developed a National Action Plan for COPD and the Foundation will continue to advocate for its implementation.
•
The Foundation believes that the NIH’s Precision Medicine Initiative (PMI) holds promise for the treatment and potential cure of Alpha-1 and supports funding for an application of this important initiative.
•
The Foundation also supports working with additional institutes that may have expertise that could benefit Alphas, including the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Center for Advancing Translational Sciences (NCATS), and the National Human Genome Research Institute (NHGRI), among others.
Food and Drug Administration (FDA) •
The Foundation will build on the success of the Patient-Focused Drug Development meeting and continue to work with the FDA to ensure that the issues raised by Alphas participating in the meeting are addressed.
•
We will continue to work closely with the FDA to identify and utilize biomarkers to develop new therapies and improve the effectiveness of existing therapies.
•
With the understanding that a cure can be found for liver affected Alphas, the Foundation will continue to advocate for improved clinical trial design endpoints for liver therapies and the inclusion of children in drug studies for liver treatments.
•
Another topic that the Foundation will continue to advocate for is policies to ensure the safest possible blood supply, which would include the creation of the TransfusionTransmissible Infections Monitoring system to protect the end users of blood and blood products.
Department of Defense (DoD) •
We will also investigate and support initiatives related to the care of those Alphas in the military and their families within the Department of Defense healthcare system.
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Access Issues: Department of Health and Human Services (DHHS) •
As Alphas continue to navigate the post-Affordable Care Act (ACA) insurance market, the Foundation will continue to ensure that the insurance products available meet the needs of Alphas, providing appropriate coverage and reimbursement for therapies.
•
The Foundation will continue to engage with stakeholders to ensure that Alphas who need them have access to third-party patient assistance programs.
Health Resources and Services Administration (HRSA) •
We will continue to monitor the work of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and explore opportunities to have Alpha-1 added to the newborn screening panels.
•
It is also important for the Foundation to advocate for the highest possible funding for HRSA’s Department of Transplantation, which administers the Organ Procurement and Transplantation Network (OPTN) and the National Living Donor Assistance Program.
•
Our team will work in coalition with other likeminded organizations to encourage liver donation and ensure those in need have access to liver transplants.
Centers for Medicare and Medicaid Services (CMS) •
Alphas require access to liquid oxygen and the Foundation will work with CMS to ensure the appropriate coverage and reimbursement of this required therapy.
•
Barriers to the administration of liquid oxygen at home impact many Alphas; therefore, the Foundation will work with CMS to eliminate these barriers and allow Alphas to access liquid oxygen at home.
•
The Foundation will work to improve patient access to infusion therapies at home.
Department of Homeland Security/Department of Transportation •
In order to change restrictive policies and regulations regarding liquid oxygen that hamper Alphas’ abilities to travel, the Foundation will engage with the agencies of jurisdiction to modify them or offer alternatives.
Department of Veterans’ Affairs (VA) •
The Foundation would like to ensure that the VA is actively engaged in awareness and education activities that will benefit Alphas. 32 | P a g e
•
Many Alphas receive their health care through the VA, and the Foundation will ensure that they continue to have access to necessary care.
And finally, we remain committed to: •
Embedding the Alpha-1 message through the COPD Foundation and COPD centric appropriations language
•
Collaborating with strategic alliances in the rare-disease community to ensure the development and delivery of patient access tools and training
•
Lobbying for appropriate participation of the Alpha-1 research community in the Precision Medicine Initiative
•
Working closely with our public policy partners and strategic alliances to monitor and respond to Medicare Part B Demo, as appropriate
Approach for COPD National Action Plan (CNAP) Implementation The Alpha-1 Foundation will remain on the frontlines of implementation of the COPD National Action Plan, with emphasis on Alpha-1 research, detection, therapy development and management of Alpha-1 related COPD. Essential to that endeavor is our continued education and empowerment of our community and strong support for: o o o
Increased 2018 NIH Funding - Advocate for special increase to NIH/NHLBI Strengthening of the CDC COPD Program and educational component on Alpha-1 Increased detection of Alpha-1 cohort in COPD population
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Alpha-1 Global Alpha-1 patients worldwide experience many of the same problems; little to no awareness of their condition; long delays in getting the correct diagnosis, all the while experiencing deteriorating health; inadequate clinical care by physicians unfamiliar with the standard of care for lung and liver disease caused by Alpha-1; and, in many cases, limited or no access to augmentation therapy (the only specific therapy for Alpha-1). th
Following the 6 Global Patient Congress in Lisbon, Portugal, Alpha-1 Global will maintain its focus on continuing to develop avenues in which the global community can collaborate and learn from each other as it pertains to education and access to care. The need for building sustainable organizations to strengthen the Alpha-1 message and reinforce patient advocacy was one of the most popular topics during the Patient Congress. Close relationships across patient, clinician and scientific communities will progress the areas of earlier diagnosis, disease management and the role of patient registries. Rohde Public Policy Group In 2012 the first “Alpha-1 in the European Union - Expert Recommendations” document was published. Two of the main European institutions (the European Commission and the European Parliament) have experienced changes since 2012 and it is therefore necessary to ensure the continuous visibility of Alpha-1 Antitrypsin Deficiency within these European and national institutions. The Expert Recommendations document has been updated in order to better advocate patient access to care in the various European countries. It will serve to support related outreach at a European and national level, and has been integrated into the Advocacy Pathway micro-site. Alpha-1 Global contracted Rohde Public Policy Group in Brussels as experts in this field. A skilled committee consisting of European Alpha-1 physicians, researchers and patients was formed to guide the process. Leading scientists, patient representatives, Members of the European Parliament (MEP) and Rohde Public Policy (RPP) worked in collaboration to improve the quality of life of the under recognized group of Alpha-1 patients. The Policy Recommendations were officially launched in the European Parliament on March 22, 2017. An extensive report of the meeting is available on the Alpha-1 Global website in the News section. Rohde Public Policy will continue to assist with coordinating efforts on a European Parliament level and meet with MEPs – specifically those focused on COPD – to disseminate recommendations to national colleagues. Guidance will also be provided for European Alpha-1 Advocacy Groups through the development of an implementation check-list.
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Next steps will include translation, design and a distribution plan in 7 languages for the use of the document in a variety of different European countries. The dissemination of the Recommendations on a national level will be geared towards healthcare professionals and will be executed by each national Alpha-1 organization. Each country will be asked to compile data regarding the number of healthcare professionals or others who received the document, any outreach conducted around the Recommendations, and the vehicles in which the Recommendations were distributed. This data will then be accumulated into a report to provide a comprehensive overview per country. Nordic Pilot The “Nordic Pilot” was created as a direct result of the 2015 Patient Congress. It serves as a prototype for building a strategic collaboration between regional Alpha-1 communities that seek improved access to care in their countries. Alpha-1 leadership from Norway, Denmark and Sweden met on November 20, 2015, in Oslo, Norway, to receive Alpha-1 Global Toolkit training and to discuss next steps toward their goals; including continued networking within their own countries. Since the Alpha-1 Patient Congress in Lisbon, representatives from the 3 countries gathered for another strategy meeting in Oslo in August of 2017. Since then, augmentation therapy reimbursement in Denmark is in the approval process and we are awaiting the outcome. Denmark On April 12, 2016, Alpha-1 Denmark conducted a symposium on augmentation therapy for key physicians in Denmark. Several experts from the European Alpha-1 community contributed to this strategic meeting, which resulted in close collaboration with the Danish Lung Foundation and the Rare Disease Association in Denmark. As an outcome of this symposium, a Danish pulmonary specialist has been tasked to write a mini-MTV (paper) that can be used in meetings with politicians and as a tool to assist with the argument for reimbursement of augmentation therapy. The Danish Respiratory Society guides the timeline of this document, which is eagerly awaited by Alpha-1 Denmark and other stakeholders. Denmark’s annual meeting and Alpha-1 weekend was held this spring, and a separate weekend will be organized for parents, siblings and Alpha-1 kids. Sweden Alpha-1 Sweden appointed new leadership in 2015. After the Alpha-1 Patient Congress, both leaders have been dedicated to solidifying activities within the Swedish Alpha-1 community. They have been conducting a variety of meetings throughout the country and make themselves available for advice and support to patients and their relatives. Alpha-1 Sweden also collaborates with key stakeholders and continues to be part of the Nordic Pilot in its overall strategies for reimbursement in those countries. Additionally, they partner with the Heart and Lung Foundation to ensure a stronger voice in influencing politicians and health care professionals on a national level. Norway Alpha-1 Norway consists of a small group of Alphas. Karen Skalvoll, a Norwegian patient, has taken the lead on Alpha-1 awareness through fitness. She participated in a powerlifting tournament and received the first Spartan Trifecta to an athlete under oxygen therapy. Her “Alpha Warriors” were the sixth largest team in the Oslo marathon and were featured in the official Oslo marathon film. 35 | P a g e
European Advocacy Efforts On April 27, 2016, Alpha-1 Global conducted an Advocacy Training for European country representatives in Milan, Italy. Karen O’Hara, UK Support Group Chair, led the training by taking participants through the Advocacy Toolkit. It was an interactive meeting and each attending country representative shared their successes and obstacles thus far. They also shared what they envision next steps in their country’s outreach plan should be. To date, we have professionally translated the toolkit into six languages: French, German, Italian, Portuguese, Romanian and Spanish. The results of an outcome questionnaire conducted last fall showed how each country has too many variables to be reflected in a concise overview. Instead, individual summaries reflect better how organizations have been persistent in expanding awareness of Alpha-1 related issues in ways relevant to their own country. Below are country specific updates on awareness efforts: Germany Alpha-1 Deutschland e.V. is one of the largest Alpha-1 patient organizations in Europe. They are members of “Achse” (a German organization of Rare Diseases) and work closely with many other patient groups. Alpha-1 Germany supports 16 regional support groups and provides the group leaders opportunities for further training. Their goal is to comprehensively promote and assist the care of patients and to increase the visibility of the disease among doctors, researchers and the general public. Educational days for adults and children are organized throughout the year and two Alpha-1 Journals are published annually. Austria Alpha-1 Austria is a well-established association incorporated in 2004. They pride themselves in providing support for their members in the best possible way which includes an annual patient event each year. The organization has a website, conducts educational days, provides publications, maintains a network of physicians and medical outlets, and organizes self-help groups in almost every state in Austria. They also partner with a hospital in Vienna where they obtain information about newly diagnosed patients that give their permission to be contacted. Another focus of Alpha1 Austria is to find new Alphas in their country and grow their patient community. Augmentation therapy in Austria is reimbursed by the country’s national health insurance. Switzerland The Swiss association is an amazing example of how focused efforts can quickly garner results. The association only began one year ago and already has about 40 members. They have created a website and an Alpha-1 information flyer in German and French, describing the symptoms and explaining the various available therapies in Switzerland. One of their main goals is to advance education, understanding and awareness of the condition, in particular among medical professionals. The group has also invited Public Health stakeholders to discuss the medical criteria for reimbursement of Alpha-1 augmentation therapy, which is still mainly based on FEV1.
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France Alpha-1 France recently updated its website and informational materials in 2016. They held meetings with doctors of the Scientific Council in order to discuss strategies to improve communication with patients. In 2017 a new publication will be created with information on topics such as: devices available for oxygen, rehabilitation and pre-transplant assessment exams. Several meetings are scheduled to take place this year, including the 2017 10 Year Anniversary Alpha-1 meeting for patients, lung and liver physicians, and a designated Alpha-1 researcher. The association conducts campaigns for improved hospital care for children, raises funds for Alpha-1 research, and organizes an annual children’s day. Throughout the year testimonies of Alpha-1 patients, doctors and researchers will be captured in creative ways and publicized on social media to ensure ongoing awareness. Italy Alpha-1 Italy is a member of the Alliance against Chronic Respiratory Diseases (GARD Italia), which supports advocacy surrounding reimbursement of augmentation therapy in all the Italian regions. Augmentation therapy is reimbursed for Italian patients. The Italian association is also a member of UNIAMO, a national federation of rare diseases. They also handle issues regarding uniformity of portable oxygen devices and recognition/identification of Alpha-1 Antitrypsin Deficiency (AATD) Referring Centers. Through National Health Service regional referees, members of the IDA Group (Italian scientific group for Alpha-1 Antitrypsin Deficiency identification) and members of scientific societies are able to discuss the need for new expertise centers. For patients unable to reach the hospital, they are advocating to provide “domiciliar” augmentation therapy in all Italian regions. On February 25, 2017, the first Italian meeting on AATD research took place. It aimed to connect Alpha-1 researchers and clinicians to promote research through collaboration among various national research centers with the goal to support various study projects. It also looked to create the foundation of a national database/biobank, involving patients directly through the association. Alpha-1 Italy is also adding new content to the Italian website which will provide access to scheduled events, educational material targeted for patients, practitioners and specialists and the annual issue of the association “Alfabello”. Belgium Alpha-1 Belgium’s Frank Willersinn, MD (Alpha-1 Foundation Board Member) continues to serve as Alpha-1 Global’s key European representative. His activities include facilitation of a multi-year advocacy effort in collaboration with the Rohde Policy Group in Brussels. He participates in the European Expert Committee on Alpha-1 Policy Recommendations, and is also a member of PLUS (Plasma Users Network). He also maintains strategic relationships with organizations like IPOPI (International Patient Organisation for Primary Immunodeficiencies), Rare Diseases Europe (Eurordis), ERN-LUNG (European Reference Network) and others. Alpha-1 Belgium conducted a meeting with the Public Health Commission during the latter part of 2016 to discuss the current state of augmentation therapy reimbursement. They also were able to publish relevant press articles and encouraged most of the Belgian Alpha-1 patients who qualified to participate in the German liver study: “Examination of Liver Involvement in Patients with Alpha-1 Antitrypsin Deficiency” (University of Aachen).
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Netherlands The team of Alpha-1 Netherlands consists of Alphas and carriers that are determined to raise awareness of Alpha-1 in the general Dutch population. Since its inception last year, the Foundation successfully launched their website, with up to date information and news about Alpha-1 in Dutch, and has welcomed over 11,500 visitors in its first year. They have enlisted renowned physicians to their Medical Advisory Board and are working with Dr. S. Pavel’s team from Aachen University to expand their liver study to the Netherlands. They are also planning their first Alpha-1 patient conference. For the next two years, the focus will be on Alpha-1 in children, reimbursement of and access to augmentation therapy for all Alpha-1 patients, genetic discrimination, early detection and patient care. Romania Romania has a small, but active Alpha-1 community. Last October, Alpha-1 Global was represented at the Romanian Lung Conference, where an Alpha-1 roundtable discussion took place between physicians and patients. Romania has its own Guidelines for Diagnosis and Management of AATD. The patients communicate mainly through social media and have been able to involve several Alpha-1 specialists. No strategic discussions regarding reimbursement of augmentation therapy are currently taking place. Poland Poland finalized the creation of an official patient association during the latter part of 2016 and has created a designated website. Plans for 2017 include preparing leaflets and posters to inform patients, families and doctors about Alpha-1. On February 28th the association represented Alpha1 patients at the first rare disease day in Poland. The Association has close ties with leading Alpha1 physicians and researchers and will assist Prof. Joanna Chorostowska with organizing the biennial Conference on Alpha-1 in Warsaw. Meetings with politicians, the ministry of health and pharmaceutical representatives to discuss the reimbursement of treatment took place, but reimbursement was denied. The group is currently evaluating next steps. Spain Alpha-1 Spain strategically collaborates with national and international organizations linked to Alpha-1 and Rare Diseases to ensure that their actions have a global reach. The organization’s work focuses mainly on guaranteeing the best possible treatment to patients, advocating directly before the sanitary and hospital administrations in those cases that Alpha-1 replacement treatment is delayed or denied. They also assist newly diagnosed patients with finding expert physicians, and when necessary, intervening in the process of referral of patients to hospitals with specialized teams in the field of Alpha-1. Augmentation therapy is reimbursed through Spain’s National Health Insurance. One of the organization’s goals this year is to improve communication channels with existing and newly diagnosed patients. They also plan to be more visible in the hospital and primary care network in Spain.
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Additional Alpha-1 Global Initiatives New Patient Associations In 2016, four new Alpha-1 associations were created in the following countries: Poland, Netherlands, Switzerland and Argentina. Each group is focused on building a network of Alpha- 1 patients in their countries and to providing education, support and a united voice to promote high quality care at affordable costs. Robert Durlik, Alpha-1 Poland leader, and Carlos Cambon, Alpha-1 Argentina leader, both serve on the 2016-2017 Alpha-1 Global Steering Committee as representatives from their respective regions.
Latin America (LATAM) The LATAM Alpha-1 network is made up of representatives from the following countries: Argentina, Brazil, Chile, Colombia, Ecuador, Panama, Puerto Rico, and Uruguay. Currently, only Argentina and Brazil have an established patient organization. Alejandra Rey, M.D., a pulmonologist from Montevideo, Uruguay, who was part of the first LATAM Congress organizing committee, is spearheading a working group of ALAT (Latin American Thoracic Society) physicians to develop Standards of Care for Alpha-1 in Latin America. The group is developing a document containing important regional information and incorporating new tools to improving knowledge, effectiveness, efficiency and safety in the diagnosis and treatment of patients with Alpha-1 Antitrypsin Deficiency. Alpha-1 Global is sponsoring the project which commenced mid-year 2016 and is scheduled to be finalized before the end of 2017. A 2nd Alpha-1 LATAM Congress is being planned in Montevideo, Uruguay, in May 2018. This two-day event will consist of one day for patients and one day for patients and physicians combined. Alpha-1 Global will assist with program development and online event execution. Australia/New Zealand Alpha-1 Global’s assistance was requested with a more integrated approach for Alpha-1 awareness in Australia in 2017-2018. Due to the current reimbursement discussions, the Alpha-1 Association of Australia (AAA) is working to better organize their patient community. Alpha-1 Global and AAA is in the 39 | P a g e
process of scheduling a series of interactive webinars for Australian and New Zealand patients, inviting speakers to present on a variety of Alpha-1 related topics. Investigator and Physician Forum in Dublin
Investigators and physicians from across four continents met in Dublin, Ireland, on November 3-4, 2016 to discuss ways of advancing Alpha-1 research and the quality of care for Alphas around the world. The purpose of the meeting was to assemble expert investigators and physician educators from different countries to begin an ongoing dialogue about important Alpha-1 issues, to identify areas of mutual interest, and to propose feasible programs to improve treatments for Alphas. As a result, Alpha-1 Global will create the infrastructure to implement proposed projects and programs, whereby creating important steps toward harmonizing Alpha-1 research and physician education on a global level. The first initiatives the group decided to move forward with include: •
•
The Global Guidelines Initiative, spearheaded by Dr. Robert Sandhaus, Clinical Director of the Alpha-1 Foundation. The project has begun with a rapid accumulation of national and local guidelines on the detection, management, and treatment of Alpha-1 Antitrypsin Deficiency. Significantly, Dr. James Stoller, of the Cleveland Clinic in the U.S., has joined the committee and has proposed that a summary manuscript be prepared presenting the similarities and differences between the various guidelines, along with an outline of potential methods for reconciling the differences and consolidating the similarities. Project updates will be made available on an ongoing basis. A Research Registries Collaboration, spearheaded by Dr. Charlie Strange, Director of the Alpha-1 Foundation’s Research Registry. Suggestions for the collaboration are currently being formulated and discussed.
Physician & Researcher e-Newsletter As an outcome of the Investigator and Physician Forum held in Dublin, a bi-monthly e-Newsletter has been developed with specific information to benefit the international Physician and Research communities. An archive of past e-Newsletter issues can be found online. 40 | P a g e
Global Community e-Newsletter The Alpha-1 Global bi-monthly e-Newsletter continues to provide important and relevant news and updates for the international Alpha community. The e-Newsletter links to our website as well as our newly launched Alpha-1 Global social media platforms. An archive of past E-Newsletter issues can be found online. Alpha-1 Global Website As we continue to develop a collaborative global network of Alpha-1 organizations, patients and stakeholders, we remain sensitive to the fact that we are establishing relationships with individuals who speak limited or no English. As a result, we have updated our website by using less text and emphasizing a simplified user navigation concept. This will engage our audience more effectively, increase access to electronic tools and collateral, and show intentionality in establishing international relations. The updated website is available with static pages translated into 5 primary languages: English, French, German, Portuguese and Spanish.
Advocacy Pathway Micro-Site Alpha-1 Global has created a micro-site that will act as an advocacy and campaigning materials hub, displaying an advocacy path for Alpha-1 stakeholders in Europe and beyond. The site will encourage advocacy on multiple engagement levels, using existing and new resources, through a self-guided training concept. The first roll-out will be in English, but we hope to provide a translation in Spanish for use in Spain and Latin America, during a next phase. The Advocacy Pathway is comprised of the following 5 topics and explanations: • What Is Alpha-1? o Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults. 41 | P a g e
Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. A low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a buildup of abnormal AAT in the liver that can cause liver disease. A short video about Alpha-1 will be included. •
o
What Is Advocacy? Advocacy is defined as any action that speaks in favor of, recommends, argues for a cause, supports, defends, or pleads on behalf of others. Advocacy strategies can include communication through social media marketing, press relations, patient & physician education, lobbying, community organizing, and many other awareness actions. An Alpha-1 Advocate is someone who works to raise awareness about Alpha-1 and/or helps to change public opinion and policy to improve access to care for Alphas.
•
Am I An Advocate? o You may think that you don’t qualify to be an Alpha-1 Advocate because you don’t have prior advocacy experience, or because you don’t like speaking in public. Yet all that is required to be an Alpha-1 Advocate is a willingness to actively participate in finding a solution to improve the lives of Alphas on a local or national level. Every time you speak on behalf of someone, or provide new educational information to a group or individual, you are an advocate. View the video on the right to learn how others started on their advocacy pathway.
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Why Is Advocacy Urgently Needed? o The lack of awareness around Alpha-1 requires policy solutions in healthcare systems in many countries. Effective policy solutions for Alpha-1 are not necessarily complicated, but the lack of awareness around the disorder means that healthcare policy has omitted key elements for patients. This is an area where a country’s national policy makers can make positive and rapid changes to patients’ lives. A lack of political action creates a vicious cycle, where unaddressed issues contribute to an increased burden for Alpha-1 patients and healthcare systems.
•
Where Do I Start? o Advocacy comes in several forms; the one that is appropriate for you will depend on your personal journey with Alpha-1, your skills and personality, and how much time you are able to invest in your advocacy efforts. There are five Alpha-1 Advocacy training tracks for the following categories: Self Advocate (healthcare for yourself or a loved one) Social Media Advocate Community Advocate (patient & physician education) Policy/Legislative Advocate Patient Organization Leader 42 | P a g e
The microsite will be available by the end of October 2017.
Highlights of the 3rd International Research Conference on Alpha-1 Antitrypsin and the 6th Alpha-1 Global Patient Congress The 3rd International Research Conference on Alpha-1 Antitrypsin and the 6th Alpha-1 Global Patient Congress took place from April 5-8, 2017, in Lisbon, Portugal. Both events brought together patients and scientists from around the world to discuss the latest developments in Alpha-1 Antitrypsin Deficiency (Alpha-1) research, clinical care and patient advocacy. Research Conference On April 5-6, 32 leading researchers and physicians met during the 3rd International Research Conference on Alpha-1 Antitrypsin. The meeting addressed novel treatment paradigms for Alpha-1 and other conditions that have become targets for Alpha-1 augmentation therapy. During the first day of the conference, attendees had the chance to hear observations on the liver cell model; the use of induced progenitor stem cells to study potential therapies; the role of macrophages for gene delivery; and the investigation of liver therapies in the Alpha-1 Z Mouse. Presentations from the second day of the meeting focused on new treatments for lung and liver disease, such as intramuscular and intra- pleural gene therapy; aerosol and antioxidant therapies; silencing RNA for liver disease and STC-GalNAc-conjugate approach to treat liver disease. There was also a focus on new disease targets for Alpha-1 Antitrypsin, including diabetes, organ rejection, autoimmune disorders and viral infections. 43 | P a g e
Tribute to John W. Walsh After the closing of the Research Conference, patients, scientists, clinicians, industry partners and colleagues came together to express gratitude to Alpha-1 Foundation co-founder, John W. Walsh, who passed away in March. During the tribute, John was recognized as an inspirational leader, who dedicated his life to finding a cure for Alpha-1. His personal dedication led him to cofound the Alpha-1 Foundation and set the stage for Alpha-1 Global. John’s colleagues and friends from the international Alpha-1 community shared their personal experiences, strengthening their resolve to honor his legacy by continuing the work he started.
Alpha-1 Global Patient Congress Following the Research Conference, the 6th Alpha-1 Global Patient Congress brought together Alpha-1 patients and physician leaders from 34 countries. Patients and caregivers could interact with scientists and doctors who are leading clinical care and research to find better treatments for Alpha-1 patients, and ultimately find a cure for Alpha-1. They also had the opportunity to engage with one another concerning the current needs of patients, and to update each other on activities including advocacy, education and selfmanagement in the digital health era. Friday Program Morning session: research updates and global collaboration Karen Skålvoll, a lung-affected Alpha and part of the Team Alpha-1 Athlete (Norway/Germany), officiated the Congress as emcee. During the two days of the Congress, she enlivened the sessions and encouraged the attendees to practice physical exercise as a necessary complement for the improvement of their health. Following the official launch of the Congress by Gonny Gutierrez, Alpha-1 Global Director, the morning session was opened by Adam Wanner, Scientific Director of the Alpha-1 Foundation (US). He shared the latest research and therapeutic updates from the International Research Conference. Alan Altraja (University of Tartu, Estonia) spoke about the effectiveness of intravenous augmentation therapy, based on the positive results of the Rapid Trial and the Rapid-OLE Trial. Sabina Janciauskiene (Hannover Medical School, Germany) presented “Alpha-1 Antitrypsin – Beyond Emphysema”, which 44 | P a g e
focused on the possible development of chronic diseases that may follow the impaired biological activity of Alpha-1 Antitrypsin as a result of inherited or acquired deficiencies. Mark Brantly (University of Florida, Miami, US) highlighted the positive outcomes of the inhaled therapy for Alpha-1, such as its anti-inflammatory effect on lungs and the capacity of the aerosolized AAT to cross the interstitial space and reduce inflammation. Marc Miravitlles (University Hospital Vall d’Hebron, Barcelona, Spain) and Pavel Strnad (University Hospital Aachen, Germany) provided updates on testing for Alpha-1. They emphasized the importance of having reference centers and national registries for Alphas. They also stressed the need to motivate primary-care centers to use the resources at their disposal to test more patients who have Alpha-1 symptoms, in order to promote earlier detection of Alphas. Marion Bouchecareilh (Bordeaux Research in Translational Oncology, France) focused her talk on the genetic mediators of Alpha-1 and the modifier genes of liver damage. Based on the validation of experimental systems of 2 candidate genes, the findings provide promise for an early prognosis for AATD-associated liver disease which could lead to possible pharmacologic developments.
The morning session closed with a panel on Research and Global Collaboration, facilitated by Gonny Gutierrez. She summarized the outcomes of the Global Alpha-1 Investigator and Physician Forum, held in Dublin on November 2-3, 2016. The purpose of the meeting was to explore the feasibility, structure and function of a global network of Alpha-1 researchers and clinicians. The forum attendees created a list of possible collaborative efforts to streamline Alpha-1 research & physician efforts around the world within the following categories: •
•
Physician Education to allow the establishment of global criteria for centers of excellence, including criteria for expert certification and globally accepted reference labs in Alpha-1 Antitrypsin Deficiency (AATD); global guidelines for diagnosis and treatment (reconciliation of existing guidelines) and possibly a global online consultation service for patients. Patient Registries Collaboration to promote the development of national registry standards and a communication tool for patients who are not currently in a registry. The 45 | P a g e
• •
project would allow the collection of patient-reported questionnaire data. Alpha-1 Research Collaboration to establish global lab-testing standards; create globally positioned centers of excellence; advocate for funding sources in Europe; and conduct a prevalence study and detection program in countries lacking these resources. Funding for Research to raise funds for continued research in Alpha-1 and novel or emerging therapies at a global level. The Forum discussed how the developing network worldwide could help achieve a more sustainable future.
Two of these projects are already underway. Robert Sandhaus, MD (Alpha-1 Foundation Clinical Director, Jewish Health, Denver, CO) discussed how the development of a global Guidelines Initiative will be used to reconcile existing and to develop new guidelines on the treatment of Alpha-1. The Alpha-1 Foundation is already working on an upgraded Research Registry format that will include patient-reported data collection worldwide. The Foundation is also looking at the next steps, such as working with Australia on harmonizing or integrating their collected Alpha-1 data, in order for each country to share its data more easily. Afternoon session: access to therapies, advocacy and organ transplantation The afternoon session was opened by Sandra Nestler-Parr (Roboleo and Co, Alpha-1 UK Support Group), who outlined the steps needed to overcome barriers to augmentation therapy access. She also challenged patient organizations, clinicians and industry partners to work more closely to ensure better use of collected patient data. Health technology assessors require this data to provide recommendations on medicines and other health technologies that can be financed or reimbursed by the various European healthcare systems. Charles Waller (Rohde Public Policy Health Brussels, Belgium) discussed the Charles Waller (Rohde Public Policy Health Brussels, Belgium) discussed development of the EU Policy Recommendations for Alpha-1 Antitrypsin and the current public policy approach at the European Parliament level within the rare disease space. Robert Stockley (Queen Elizabeth Hospital, Birmingham, UK) led a session on concerted efforts within clinical practice advancement. Sleep related issues were addressed by Leonardo Fuks (Rabin Medical Center, Petah Tikva, Israel) who pointed out the effects of insomnia and sleep apnea. Rosa Malo de Molina Ruiz (University Hospital Puerta de Hierro Majadahonda, Spain), a pulmonary transplant specialist, discussed the current procedure for pre and post lung transplant patients. She emphasized the key concerns and needs of patients and healthcare professionals involved in transplants.
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A panel discussion on lung and liver transplantation closed the afternoon session led by Karen Erickson (Associate Executive Director, Community Engagement, Alpha-1 Foundation). The panel brought together both lung and liver transplanted patients (including children) who shared their personal experiences and concerns. They highlighted the importance of being psychologically well- prepared before the transplantation procedure. They also emphasized the need for strong support from relatives, caregivers, friends and a transplant team in which they feel confident. Saturday Program: exercise, e-health, patient advocacy and global commitment The second day of the Patient Congress started with a dynamic session led by Karen Skålvoll, who encouraged the attendees to maintain an active daily life with simple fitness tools and exercise plans. She also challenged other Alphas to improve their physical activity levels as “Alpha Warriors” and explained how she, a seasoned athlete, marathon runner, and oxygen user, has overcome barriers to continue participating in leading sporting events worldwide, and to help raise awareness and funding for Alpha-1 research and related programs. Shane Fitch (Lovexair Foundation, Spain and Portugal) provided a summary of what digital healthcare apps and web-based disease management care programs mean to the future of the patient community. She pointed out that such technology could improve patients’ self-care and produce better health outcomes for each patient. Moving forward on advocacy for those countries that still have no access to care, Karen O’Hara (Alpha1 UK Support Group, Worcestershire) gave a concise simple step plan and pointed out the key considerations that patient leaders need to work on to progress effectively. This roadmap has been used in the UK with considerable input from experts in public policy. Frank Willersinn (Alpha-1 Plus Brussels, Belgium) talked to new country members about how to network with specific global, European and other organizations to strengthen their positioning and capabilities to achieve their objectives. Willersinn noted that once the organizations have established what their objectives are, the Alpha-1 Global network could help by connecting people and providing training and support. Joanna Chorostowka (National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland), Ruxandra Ulmeanu (Institute of Pneumology, Bucharest, Romania) and Aleksandra Ilić (Medical School University Belgrade, Serbia) closed the morning sessions, sharing their experiences as Central & Eastern European physicians who spearhead patient collaborations on a national level in their countries.
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Congress closing: Global commitment and next steps An interactive panel session with Steering Committee Members closed the morning session by addressing questions and comments brought up by the audience. Afterwards, Gonny Gutierrez presented Alpha-1 Global’s strategic direction for 2017- 2019, which will be used as building blocks for a three year strategic plan. Henry Moehring (President & CEO, Alpha-1 Foundation) officially concluded the Patient Congress with a commitment from the Alpha-1 Foundation to support Alpha-1 Global’s activities around the world. Congress 2019 The 7th Alpha-1 Patient Congress and 4th International Research Conference on Alpha-1 Antitrypsin are scheduled to take place in April 2019. The event dates and location will be finalized before the end of 2017.
2017-2020 Alpha-1 Global Strategic Objectives • • • •
Facilitate effective stakeholder collaboration Raise Alpha-1 awareness globally Support the launch and strengthening of Alpha-1 organizations Promote early diagnosis and optimal access to care
2017-2020 Alpha-1 Global Strategic Actions •
Facilitate effective stakeholder collaboration o Promote patients’ interest through global stakeholder collaboration o Encourage broad and inclusive national and regional partnerships o Grow the Alpha-1 patient, research and physician community around the world
•
Raise Alpha-1 awareness globally 48 | P a g e
o o o
Support awareness campaigns on a global, national and regional level Compile and report information about each country’s Alpha-1 community Increase awareness through a diversified communication strategy
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Support the launch and strengthening of Alpha-1 organizations o Assist with the launch of national Alpha-1 organizations o Keep the global Alpha-1 community informed on research and patient care worldwide o Provide support and training to Alpha-1 leadership through meetings, events, and resources
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Promote early diagnosis and optimal access to care o Promote early diagnosis and access to optimum Alpha-1 care and treatment globally o Monitor access to care and treatment affecting Alphas around the word o Encourage patient involvement in policy decision-making through focused advocacy efforts
2017-2018 Alpha-1 Global Action Plans Facilitate effective stakeholder collaboration •
Expand network of Leaders
Expand network of leaders, Alpha-1 representatives and trainers to create a broader platform of engaged and educated representatives. Current Alpha-1 leaders will be asked for recommendations of (preferably English speaking) Alphas who can serve in a wider capacity as “experts” in their field: as a speaker, trainer on a certain topic, or as a health care representative. •
Scientific Research Collaboration
Physicians and researchers from across four continents met in Dublin, Ireland, on November 2- 3, 2016, to discuss ways of advancing Alpha-1 research and the quality of care for Alphas around the world. They began an ongoing dialogue about important Alpha-1 issues to identify as areas of mutual interest, and to propose feasible programs to improve treatments for Alphas. Alpha-1 Global organized the meeting and will create the infrastructure to implement the proposed projects and programs. Since the meeting, two projects have been chosen to move forward during 2017: a collaboration on Global Guidelines and a collaboration on Research Registries. •
Regional Advocacy Projects
In collaboration with Alpha-1 patient representatives in Europe, Latin America (LATAM), and Australia/New Zealand, we continue to multiply our efforts by using current materials in a wider context. A good example is the recent publication of the EU Policy Recommendations document, which will be used for advocacy purposes in other regions as well. Raise Alpha-1 awareness globally •
Website
Maintain the Alpha-1 Global website, including continued updating/expanding of country pages, access to care information and current country specific Alpha-1 data. 49 | P a g e
•
Questionnaire
After the recent Alpha-1 Global Patient Congress, a questionnaire was conducted among Alpha- 1 leaders to assist with the planning and offerings for the 7th Patient Congress in 2019. The questionnaire was used to obtain relevant information from each leader/organization to evaluate what training is needed and how best to assist. •
eNews
Continue bi-monthly Global Community eNews and Research & Physician eNews publications to keep our stakeholder groups informed of the current happenings around the world. •
Social Media
Continue a daily social media presence on Facebook and Twitter. Support the launch and strengthening of Alpha-1 organizations •
Biennial Alpha-1 Global Patient Congress
Organize a biennial Global Patient Congress in conjunction with the International Research Conference on Alpha-1 Antitrypsin. The 2017 Patient Congress was held in Lisbon, Portugal, in April 2017. A location for the 2019 Patient Congress is yet to be determined. Initial preparations will be made during FY 2018. •
Create an “Alpha-1 Support Group” (start-up) manual
Provide a document that outlines a plan including best practices and resources related to Alpha-1 in order to assist aspiring patients to become effective support group leaders. • Online Offerings Expand our online offering of relevant training materials and expertise provided by partnering organizations. • Conference & Meeting Master Calendar Create an annual Conference & Meeting master calendar and reporting structure to the global Alpha-1 community. •
Expand global network of physicians and researchers
Actively grow our physician databases through our current networks and create a directory of Alpha-1 physicians per country. Promote early diagnosis and optimal access to care Europe (partially in collaboration with Rohde Public Policy Health) •
EU Recommendations & Advocacy Micro-site
Alpha-1 Global will create a micro-site that would host not only the EU Alpha-1 recommendations but also act as a European advocacy and campaigning materials hub, displaying an advocacy path for Alpha1 stakeholders. 50 | P a g e
•
National Dissemination
Several countries have already offered translation assistance of the EU Recommendations into their native language. A survey is underway to evaluate which countries are willing to translate the document and what additional assistance is needed. The dissemination of the Recommendations will be geared towards healthcare professionals and will be executed by each national Alpha-1 organization. Each country will be asked to compile data regarding the number of healthcare professionals or others who received the document, any outreach conducted around the Recommendations, and the vehicles in which the Recommendations were distributed. This data will then be accumulated into a report to provide a comprehensive overview per country. •
Pilot Project: concerted advocacy to pursue augmentation therapy access
A concerted advocacy strategy will be developed for one of the EU countries ready to pursue augmentation therapy access. This effort will serve as a “pilot project” to be replicated by other countries ready for such a comprehensive national campaign. •
Exhibition for Members of the EU Parliament
One of the proposed activities is an exhibition at the European Parliament, aimed to explain Alpha-1 Antitrypsin Deficiency to Members of the European Parliament. This will further promote the policy recommendations and provide policy-makers and parliament visitors with an opportunity to be tested for Alpha-1. •
Policy Implementation
Through meetings with identified representatives of the European Parliament, the European Commission, Health Attachés, and other relevant stakeholders, Alpha-1 Global continues to work with Rohde Public Policy Health aiming to achieve the endorsement of at least one priority topic recommendation for legislative implementation. Australia The Australian Alpha-1 Association has requested Alpha-1 Global’s assistance with developing a comprehensive plan for outreach among stakeholders in the Australian patient, physician and research communities. This would include close collaboration with Key Opinion Leaders and pharmaceutical representatives. Action Plan: •
Develop a Plan for Outreach
Provide an integrated plan for Alpha-1 awareness in Australia in 2017-2018.
2017-2018 Alpha-1 Global Deliverables Facilitate effective stakeholder collaboration
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•
Global Guidelines
The Global Guidelines Initiative, spearheaded by Dr. Robert Sandhaus, aims to reconcile existing guidelines and develop new guidelines on the treatment of Alpha-1 and to develop a global guidelines document that can be promoted and published by a sanctioning body, such as the World Health Organization. A library search is currently underway of all existing guidelines. Each document will be reviewed and areas of agreement and disagreement identified. A summary manuscript will be prepared presenting the similarities and differences between the various guidelines along with an outline of potential methods for reconciling the differences and consolidating the similarities. Dissenting opinions still existing after careful deliberation will be noted in the document. This project may take longer than a year to be finalized. Progress reports will be provided throughout FY 2018. •
Research Registries
The aim of this project is to integrate existing data collection efforts around the world to provide suggested fields for new country specific registries to participate at a global level. A global registry in which similar longitudinal data is collected, allows comparisons between health systems and treatments to provide improved patient care and preliminary data for future research. A list will be compiled of existing registry fields from all registries for Alpha-1 worldwide, including any in the process of being developed. All of the fields will be reviewed and areas of agreement and disagreement identified. Representatives of the registries will work to reconcile differing views if appropriate and possible. A forum for publication of the shared field libraries will be determined and disseminated. Barriers to implementation of a global registry will be reviewed and cataloged. This project may take longer than a year to be finalized. Progress reports will be provided throughout FY 2018. Raise Alpha-1 awareness globally •
Updated website and current country information available online.
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The results of the questionnaire will provide insight allowing us to create a listing of training opportunities to be provided during 2017-2018.
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Bi-monthly Global Community eNews and Research & Physician eNews publications and social media presence.
Support the launch and strengthening of Alpha-1 organizations •
Alpha-1 support group training manual (including an online training seminar).
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Master Schedule of Conference & Meeting attendance: including European Respiratory Society (ERS), International Plasma Protein Congress (IPPC), Platform of Plasma Protein Users (PLUS), European Reference Network (ERN)-Lung, European Reference Network 52 | P a g e
(ERN)-Liver, Rare Diseases Europe (EURORDIS), European Medicines Agency (EMA), Latin American Thoracic Association (ALAT), Lung Foundation Australia and others. •
Regional Alpha-1 Patient & Physician Leadership networking online (EU, LATAM, Australia/NZ).
Promote early diagnosis and optimal access to care Europe •
Increased awareness and suggestions for policy implementation on an EU level.
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EU Parliament Exposition & Testing Opportunity.
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Micro-site to act as a European advocacy and campaigning materials hub, displaying an advocacy path for Alpha-1 stakeholders.
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EU Policy Recommendations translated and distributed in countries that choose to participate.
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Pilot Project results that aim to move the needle favorably towards access to and reimbursement of augmentation therapy.
Latin America •
Provide additional online resources in Spanish.
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Streamline communication and efforts in Latin America, mainly through online network meetings.
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Assist with the program development and execution of the Alpha-1 LATAM Congress in 2018.
Australia •
Create a 2017-2018 awareness strategy. Execution will take place within the next 12 months.
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Patient Support Network The Alpha-1 Foundation’s network of volunteer led support groups continues to be a substantial resource for our community. It is comprised of 76 affiliated Support Groups throughout the country. They are dedicated to providing support, education and information and are led by devoted volunteers, most Alphas themselves, who are committed to helping individuals affected by Alpha-1 improve their quality of life. These groups help to foster an enhanced, healthier sense of personal identity and a connection with the larger Alpha-1 Community as well as extend the Alpha-1 Foundation’s mission to local communities. Support Group Leaders (SGLs) receive education and training throughout the year to maintain consistency among each group. This allows each participant access to the same level of support, education and other services available to Alphas and their families. Each Leader abides by guidelines that are reviewed annually and shared with industry. This year, the Foundation is pleased to have filled leadership positions in California, Florida, Virginia, Connecticut, Massachusetts, Nevada, Texas, Georgia, Arizona, Ohio, Michigan, Colorado, Maryland, Kansas, New York and Kentucky.
Each support group meeting must have an educational component and that often requires a speaker. In an effort to ease the burden on the leader to secure an expert, the Foundation has prepared a virtual meeting toolkit. A major component of this toolkit is the content of our e-education library. The recordings of Alpha-1 experts continue to provide SGLs with quality presentations that allow them to hold effective and educational meetings without the need for a speaker at the venue. There were 34 of these recorded videos used at support group meetings this year. Last year, the presentation entitled, ‘The Role of the Foundation in the Alpha-1 Community’ that was developed for leaders to present to
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their groups was revised. It has proven to be a great tool to give an overview of the Foundation’s programs, resources and support in the community. Many members of the Alpha-1 community, whether due to demographic or physical limitations, do not have the ability to attend support group meetings. Support is a key component to well-being and the Foundation strives to ensure access to Alphas, friends, family and experts regardless of an individual’s limitations. Virtual Support Groups help to provide that support community wide. The four Virtual Support Groups consist of Pre & Post Transplant, Timely Topics, Alpha-1 Families and Caregivers. These groups meet by conference call on a quarterly or bi-monthly basis and highlight speakers in specific areas. The Caregivers Virtual Support Group includes open forums about their experiences, to share advice, how to make important legal decisions and keeping a health care journal. The Pre & Post Transplant Virtual Support Group discusses how to prepare for transplant and what do when one gets the call. The Timely Topics Virtual Support Group is open to everyone in the community, especially those who do not have access to a local support group. This group has covered several different topics such as Traveling with Oxygen, Access and Reimbursement and Patient Assistance for Copays and Premiums. The Patient Information Line is a main resource for newly diagnosed patients, Alphas and family members to gain access to information and referrals to resources. Referrals are made based on each caller’s needs. Referrals and resources regularly include information about the local Support Group, Peer Guide Program, Clinical Resource Centers, testing options and the Research Registry. The Genetic Counseling Program is also discussed as a resource for the individual as well as other family members who may have questions regarding the genetics of Alpha-1. Through the Support Group Meeting Fund, SGLs obtain financial support for their meeting expenses. An educational portion of the meeting and other guidelines are evaluated in the grant requests for this funding. Many of the Support Groups do not have access to physicians, health care professionals and others with Alpha-1 expertise in their communities. Through the Support Group Meeting Fund, Support Group Leaders are able to organize meetings that otherwise might not be possible, bring in speakers with an expertise in Alpha-1 and other pertinent subjects that affect an Alpha’s daily life. This fund will also be used to hold special meetings and events that will build a sense of community within the region. All will utilize the support group membership and guidelines to maintain the important educational components and the privacy that the support group structure demands.
Accomplishments This past year the Support Network: •
Served more than 5,000 patients and family members
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Consisted of 76 support groups located throughout the United States and was led by 113 Support Group Leaders and Co-Leaders
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Formed 6 new groups and had their first meetings in the states of Kentucky, Florida, Georgia, New York and Virginia
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Acquired 18 potential new Support Group Leaders who are currently in the process of being vetted, are in the training pipeline and/or waiting to have their first meeting. This will result in 5 new support groups in Nevada, California, Ohio, New York, and Texas and 6 existing groups will have new leadership 55 | P a g e
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Updated the SGL Manual into 44 concise pages containing basic management practices and guidelines, suggested meeting topics, speaker options, communication, budgeting, reporting, community outreach, additional available education, serving as a peer guide and Support Group Leader protocol
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Conducted one-on-one mentoring for SGLs to improve their effectiveness as leaders and increase their knowledge of all issues and concerns that affect their Support Group members
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Required onboarding training for new leaders to be completed prior to their first meeting in an existing or in a new group: o SGL Training Manual o SGL Privacy Best Practices o State of the Union Address by Henry R. Moehring, MBA, President and CEO o “Research Registry, Clinical Trials & Latest Research Update” by Charlie Strange, MD o Alpha-1 Testing – What SGLs Need to Know
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Organized 9 Leadership conference calls that take place annually, including: o An educational component from a subject matter update o A Building Friends for a Cure update and opportunity o Foundation Leadership report o Information on current initiatives and processes to engage support group leaders and members to move the mission forward o Advocacy update
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Conducted a day-long Support Group Leader Training held in Chicago, IL immediately following the 2017 National Education Conference: o 63 Leaders and Co-Leaders were in attendance o The Ed Brailey Lectureship Hour was presented by Kristen Holm, PhD, MPH, National Jewish, Denver on Anxiety and Depression and Coping Skills that both encompassed both lecture and Support Group Leader participation
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Organized 160 experts to present at the FY2017 support group meetings. Among these experts were 50 Clinical Resource Center physicians.
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We have implemented the use of technology to allow experts to virtually provide valuable information to the support group attendees via SKYPE. This enables attendees to hear from national experts giving them the opportunity to interact, raise health concerns and ask questions. These following experts presented to groups: Dr. Jeffrey Teckman, CRC physician, gave five presentations in California, Illinois, New York and Ohio Kim Brown, Genetic Counselor, gave three presentations in Arkansas and Illinois Dr. Charlie Strange, CRC physician, gave one presentation in Georgia 56 | P a g e
Dr. Andrew Wilson, CRC physician, gave two presentations in New Jersey and New York
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Arranged for Support Group Leaders to speak to the staff and donors at 10 Plasma Collection Centers in Utah, Florida, Wisconsin, Virginia, Louisiana, Minnesota, Michigan, Oregon and two in Georgia
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Prepared SGLs to staff 15 National Association for Continuing Education (NACE) Conference exhibits in Virginia, two in Georgia, Alabama, Maryland, Florida, New York, Washington, Pennsylvania, Missouri, South Carolina, Arizona, California, and two in Ohio. Several of these Leaders told their story to the audience of primary care physicians, nurse practitioners and physician assistants
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Emphasized the benefits of SGLs to make Plasma Center Tours available to their groups where possible. Many Leaders have facilitated these ‘field trips’ for their groups with the assistance of their local representatives. There were two Shire tours in Indiana and Iowa and five Grifols tours in Nebraska, Washington, Arizona and two in California
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Remote viewing during support group meetings increased participation at the National Conference. Two new groups in Nevada and Colorado held their first support group meeting on Saturday, June 24th, connecting and participating in the educational sessions at the 2017 National Conference. Support Group Leaders that attended the National Conference encouraged their members to gather in groups at home or in other venues to listen to the general session, education tracks and remotely experience the excitement of the largest gathering of Alphas in the world
•
There were 639 total calls made to the Patient Information Line in FY 2017. Calls from Carriers vs. Alphas increased from 51% from the previous year to 68% for 2017 Top 3 reasons for calls: • Discuss Symptoms • Find an Alpha-1 Specialist • How to Get Tested
We continue to utilize the results of the Alpha-1 community survey conducted as part of the 2015 Patient Focused Drug Development effort at the Food and Drug Administration (FDA).
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To address the need to support caregivers in our community (>14% of the survey respondents), we consulted with Jane Hamilton of Partners on the Path and conducted a caregivers focus group at the 2016 National Education Conference. Questions related to our caregiver programs satisfaction were included in the focus group and responses provided significant data for driving the following actions: • • •
Create a Caregivers resource section on www.alpha1.org Market the availability of caregiver peer guides in our network Provide caregiving workshops at the National Education Conference
Ours efforts to both identify and appropriately address the widespread anxiety and depression in our community (surveyed at 71%) continues. As a first line of defense, the Support Group Leaders and community engagement staff at the Alpha-1 Foundation took part in the “Anxiety and Depression – Identification and Coping Skills” workshop with Kristen Holm, PhD, MPH immediately following the National Education Conference in Chicago. Collaborations with other leaders in the rare disease space are underway with a goal to share best practices and implementation of programs to address anxiety and depression in our communities.
Approach The Foundation will continue to support the continued growth and vitality of the Patient Support Network and enhance its resources toward improving the quality of life for individuals and their families affected by Alpha-1 through access to support, education and resources regardless of their location. Great consideration is being paid to the reality that our community is growing. The demographic and 58 | P a g e
geographic diversity is vast and trends show that our community is utilizing technology more to engage with each other and the Alpha-1 Patient Support Network. The 2018 goals include: •
Through the Support Group Meeting Fund, SGLs will obtain financial support for their meeting expenses. Support Group Leaders are able to plan and facilitate more meetings with a greater array of topics and speakers due to having access to funding for their local meetings. The meetings provide those that cannot attend educational events the opportunity to learn from experts in the field of Alpha-1.
•
A major upgrade in the training and mentoring of Support Group Leaders will continue in order to empower them in their roles and expand the reach of the Support Network to benefit the Alpha-1 Community. Training events will be developed and added to various Education Day agendas and select Support Group Leaders will be invited to participate, as appropriate per topic. Additionally, program and opportunity related trainings will be virtually delivered to the support group leaders and community members, as appropriate. The training will both build and utilize the skill sets of the individuals invited and be based on their level of subject matter expertise. Training will be aligned with initiatives in the community and may fall under the umbrellas of development, advocacy, access and reimbursement, detection, CRC liaison readiness, etc. We will implement a training program that best facilitates program growth and impact. We will develop and deliver the virtual training on a platform that will allow the sessions to be archived and referenced by others.
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General topics relevant to all levels of SGLs will be presented at the National Education Conference training program and in a format that engages the leaders and fosters participation throughout the session.
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Measurements and metrics associated with the training will be collected to indicate behavioral change brought on by the training.
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The Foundation will continue to bring expert delivered, educational components to the meetings. As a key endeavor, we will foster the participation of Clinical Resource Center (CRC) physicians in the community support network in accordance with the new CRC criteria.
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The Foundation will continue to utilize and promote Virtual Support Groups (VSG). The topics of the VSG have previously been Pre & Post Transplant, Timely Topics, Alpha-1 Families and Caregivers and were delivered at varying intervals. In response to the survey data, we will partner with subject matter experts in Caregiving and in Anxiety and Depression and use an updated VSG platform, as well as a podcast platform and relevant materials to deliver an interactive series on Caregiving and on anxiety and depression as it is developed. o
We will again follow-up the series with queries into the readiness the participants feel they gained in order to deal with being a caregiver. 59 | P a g e
•
Support Group Leaders will continue to make Plasma Center and Manufacturing Plant Tours available to their groups where possible and will continue to be a reliable resource to other programs of the Foundation, representing and speaking on behalf of the patient community.
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We will continue to build remote services for the Support Groups to participate in educational events throughout the United States.
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Remote viewing of the Annual National Education Conference will continue to be facilitated and allow for support group members to participate and ask questions real-time.
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The Foundation will organize an online component using Live Stream and Vimeo at two education days per calendar year to allow for remote participation in the support groups throughout the country. These would also allow for support groups to gather, watch the feed and ask the presenters questions.
Educational Scholarships Each year the Alpha-1 Foundation provides educational scholarships to Alphas or their immediate family members who have been accepted to study at an approved institution such as an accredited university, community college or technical institute. It is designed to assist those in need to further their post highschool education. Another scholarship is the John (Jack) W. Walsh Scholarship award established in 2010. Jack Walsh, father to John Walsh IV, Fred Walsh, Judith Walsh and Susan Ferro, was a friend and mentor to hundreds of Alphas and a patriarch of the Alpha-1 Community. This year, a total of 7 Educational Scholarships were awarded to deserving individuals. One such individual was Joseph H. Garloch. Here is an excerpt of a letter he wrote to the Alpha-1 Foundation: “Thank you for the scholarship money! This scholarship money will help me with tuition and books. I ended up graduating from high school as Summa Cum Laude and was able to transfer 38 college credits to Indiana University. I took Dual Credit and AP classes and all the credits transferred. I plan on pursuing my degree in Chemistry. I just finished my first week at Indiana University and love it! Thank you again for your generosity!”
Emergency Relief Fund The Emergency Relief Fund provides financial relief to Alphas and families in need. This fund helped 96 families this year. It has assisted those facing financial stress and those who are unable to pay for basic and urgent needs such as utilities, home disasters or expenses to travel to a transplant center. Financial assistance is provided based on need with a maximum of $500 for each individual. New guidelines limit an individual to a single request per person and stipulate that funds cannot be used for premium or co-payment assistance. Funding for emergencies is critical for our community. Many Alphas are forced to quit work because of their failing health and many are living on a fixed income of social security only. The program and need has become so significant, that the Alpha-1 Foundation has contracted with the National Organization for Rare Diseases (NORD) to administer the program and fund requests based on agreed upon criteria. 60 | P a g e
Oxygen Travel Assistance Program Supplemental oxygen and the choice of systems available have always had a financial demand, but now a limitation due to competitive bidding. Our oxygen travel assistance program is now more important than ever as demands for ambulatory systems is expected to increase. The ability to remain mobile is important to Alphas in our community. The Alpha-1 Foundation’s Oxygen Travel Assistance Program has provided access to those who need to travel with supplemental oxygen. Alphas are extremely grateful for this Foundation program that allows them ease of travel and peace of mind. The program gives priority to those requesting oxygen to travel for medical emergencies, transplant evaluation, Education Days, National Education Conference and visits to Clinical Resource Centers. This past year the Alpha-1 Foundation loaned and facilitated the delivery of 38 supplemental oxygen systems to support our community’s needs. Sixteen systems were used to allow patients to attend education days, 10 were stationary units for home use, 6 systems were delivered to AlphaNet Coordinators for support and multiple packages of concentrator batteries were provided to allow Alphas a longer period away from home and for travel.
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National Education Series The Alpha-1 National Education Series is comprised of six one-day patient educational programs which provide access to current medical information and resources for Alphas, their families and caregivers. A patient dinner or event is held in conjunction with each program to provide Alphas and their families an additional opportunity to interact and connect with each other. Each year the Education Day programs are held in different geographical regions in the US, either in collaboration with a Clinical Resource Center (CRC) or in a specific underserved geographical area. Local Support Groups and Patient Advocates are engaged in the regional planning committees of each Education Day. The Education Days have been approved by the American Association for Respiratory Care (AARC) for six hours of Continuing Respiratory Care Education and the Foundation works with the AARC to invite local respiratory therapists to attend and to provide recommendations for speakers as well.
Accomplishments The 2017 Education Series included: A total of six (6) Education Days: o o o o o o
San Francisco, CA – February 25th Austin, TX – March 25th Atlanta, GA – May 6th Boston, MA – August 5th Boise, ID – September 30th New York, NY –October 21st
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So far, a total of 318 individuals have attended the first three Education Days, including 155 first-time attendees and 12 respiratory therapists. Sixteen patients were provided with travel assistance for the first three Education Days. The program agendas are always developed by a committee of local Alphas, adapted to their specific requests. There has been a keen interest in Public Policy initiatives this year with requested presentations in both San Francisco and Atlanta. A walk was held in Boise, Idaho on September 30th. The original plan was to hold the New York Education Day in conjunction with the 10th Anniversary of the George Washington Bridge Walk; however, scheduling difficulties were encountered. The walk was held on Mother’s Day weekend and encouraged participation at the Education Day in October. A key component of the Education Day program is to collaborate with the local Clinical Resource Centers whenever possible. Local CRC physicians participated and/or served as hosts for all Education Days so far this year. Local Support Group Leaders are encouraged to attend Education Days held in their area. It is advantageous for these leaders to greet and register the attendees. It provides them an opportunity to connect with first time attendees. These events also provide an excellent arena to recruit new Support Group Leaders and members. This was done in Denver, San Francisco and Austin. The Research Registry attends all Education Days to recruit enrollees. The Registry is highlighted at the Friday evening dinner, Saturday morning welcome session and during the Alpha-1 Foundation Update session. This year 24 Alphas joined the Research Registry at the first three Education Days. Many attendees do not enroll at the event, but do so online at a later date.
Approach The Foundation remains dedicated to educating Alphas, their families, healthcare professionals and others about Alpha-1 Antitrypsin Deficiency. Educational programs allow patients and caregivers to interact with one another and gain valuable information from Alpha-1 experts on pertinent health information and the latest research. Six cities and dates have been chosen to host Alpha-1 Education Days in the 2018 calendar year. Tentative dates and cities are: 63 | P a g e
o o o o o o
Tampa, FL – February 24th Tulsa, OK – March 24th Richmond, VA – April 28th Omaha, NE – August 25th Grand Rapids/Lansing, MI – September 22nd or 29th Seattle, WA – October 20th
The Foundation will continue to work closely with the AARC to ensure that respiratory therapists in the region are invited to attend the Education Days, to provide six hours of Continuing Respiratory Care Education to all who attend the programs, and to request recommendations for speakers at the events. In order to offer education throughout the country, regardless of income, the Foundation will provide up to 8 travel stipends to patients at each educational program to encourage attendance and offer assistance to those in financial need. As part of Community Engagement, Clinical Resource Centers (CRCs) will continue to be an integral part of Education Days as lead facilitators and speakers. First-time attendees will be a focus at each Education Day, and every effort will be made to connect them to community leaders. The Alpha-1 Foundation will continue to expand on the success of the Building Friends for a Cure program by holding events in conjunction with Education Days and encouraging the participation of local support groups, attendees and CRCs in the area. Building Friends for Cure events will be held at the Richmond, Omaha, Seattle and Michigan Alpha-1 Education Days. Qualified subject matter experts will host roundtable discussions on a variety of topics including caregiving, oxygen, access and reimbursement and transplant, thus providing small group discussions on the subject outside of the general session.
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National Education Conference The Alpha-1 National Education Conference is the largest gathering of Alphas and their families in the world. This conference provides an arena for Alphas to network with each other, become motivated to take charge of their health, become involved in a local Support Group, take part in awareness and outreach activities, participate in a fundraiser or get involved in advocacy. It also provides industry an opportunity to interact with patients directly regarding their products and services and to convey their commitment to the Alpha-1 community. Most importantly, the event garners Alpha-1 Specialists, new and old, to bring incredible subject matter expertise, education, tips and tools to the community. The attendance continues to grow each year.
Accomplishments The 26th Annual Alpha-1 National Education Conference was held in Chicago, IL on June 23-25, 2017. This was the highest attended National Education Conference ever held. There were 652 people in attendance which included 190 Alphas/family members attending for the first-time. Alpha-1 Foundation Board members, over 60 Support Group Leaders, 46 AlphaNet Coordinators and Foundation staff took an active role at the conference and were a valuable resource to the attendees. Along with Alpha-1 Lung and Liver 101 sessions on Friday afternoon, a Conference Orientation and Foundation Resources for First Time Attendees session was scheduled. For more advanced conference attendees, sessions on Clinical Trial Design and Trial Participation were on the Friday agenda. Social interaction at the conference is a vital aspect of the gathering. Late Friday afternoon, a Community Engagement forum gave attendees the opportunity to meet and greet with community leaders and fellow Alphas and Friends and Family. The forum provided a platform for attendees to interact and learn about Foundation programs and ways they could become involved. Volunteer leadership and staff shared examples of the programs’ benefits and how easy and important it is to become involved in the Alpha-1 community. The final hour of the forum allowed the attendees to learn, “How to Tell Your Alpha-1 Story.” A formal training, complete with collateral material was provided. At the end of the training, many Alphas and caregivers took the opportunity to tell their story to others in the room – proving the lesson was successful. The Foundation booth, staffed with Foundation personnel, Support Group Leaders and Board members, was a hub for information on how to become engaged in moving the mission forward. Research, Fundraising, Support Network and Advocacy were some of the vital ways discussed with those seeking the opportunity. A visual of a family tree was used to discuss the importance of testing and how important it is to talk to family members about Alpha-1. 65 | P a g e
Increasing reach into the Alpha-1 community is a key goal of the Alpha-1 Foundation. Only a small portion of the Alpha-1 community is able to attend educational conferences. Many are unable to travel due to illness, disability and financial reasons. This year, greater efforts were made to increase the reach of the National Education Conference and ensure that the community members who are unable to attend were still able to participate and share the experience.
During the last two conferences, Livestream® was used to bring the general sessions and a single track to home viewers. Additionally, webcast (slides and audio) was available for the other three Saturday afternoon tracks. This year, Facebook live and webcast were used for remote viewing. This year, live coverage was also made available for the Friday night awards and for the tribute to John W. Walsh on Saturday evening. During the 2016 Miami conference, just over 2,000 individuals Livestreamed the sessions. This year, the number of individuals reached remotely far surpassed 2016. We attribute the increase to two things: • Ease of use for Facebook live • Pre-conference marketing o ALPHA-1-to-One article o Website banner on home page rotator o E-communications regarding the conference (see below) 66 | P a g e
Email Open Rate Watch the 2017 National Conference online! 18.08% Are you watching the conference live right now? 19.35% Are you watching the conference live right now? (second 19.65% time)
# of Opens 2,364 2,520 2,556
The remote reach to the Alpha-1 community is illustrated by the following data: •
Facebook Live Videos o 11 videos published 6/24/17 o Total views for all 11 videos: 16,249 views • Most viewed video: o 4,577 views & 107 shares o “What does it mean to be an Alpha-1 Carrier?” by Charlie Strange, MD • Ranking of top video breakout sessions: o “What does it mean to be an Alpha-1 Carrier?” by Charlie Strange, MD (4,577 views) o “What’s new in treatments and does treatment work?” by Robert Sandhaus, MD (1,976 views) o Transplant policies and procedures by Kamyar Afshar, MD (1,256 views) o Benefits and cautions of using social media by A1F Staff (1,042 views)
John W. Walsh Tribute on FB Live On Saturday night, the Foundation also broadcasted the John W. Walsh Tribute Dinner which drew over 2,500 views. Viewers from around the world tuned in, notably Jenni Nankervis from Australia, and John’s sister, Juba, who watched from Turkey.
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Webcast Videos Views Views 6/24/17 Views 6/25/17
Track 2 101 12
Track 3 62 1
Track 4 31
Social Media Continues to Expand Reach The remote viewing and posts spurred a great deal of social media activity and expanded the visibility of the conference to new heights. Prior and during the conference, the Alpha-1 Foundation issued 67 posts to social media. These posts included prompts to register for the conference, highlights of upcoming topics or speakers at the conference, promotions for the online viewing, countdown to the conference, and live posts during the event including the video streams. From a week prior the conference, to a week after, we reached 66,000 individuals on Facebook and another 4,500 individuals on Twitter. The numbers continued to grow. By a month after conference, 9,788 engagements/interactions were made [engagements and interactions are when people directly click on a post or “like� posts] and our total impressions and reach [impressions and reach refer to how many people saw the post(s)] rose to 122,210. Conference Evaluations The 26th Annual Alpha-1 National Education Conference met the needs of the community and garnered great ratings and positive feedback. On a scale of 1-5, with 5 being strongly satisfied, the conference content came in at 4.63. The surveys completed by the attendees overwhelmingly showed satisfaction with the areas that brought the individuals to conference - Education, knowledge and learning.
Approach Plans are underway for the 2018 Alpha-1 National Education Conference. San Francisco has been chosen as the location for the 27th Annual Conference. Again, increased reach will be of paramount importance and analysis of remote participation at the Chicago conference will be a key driver for the determination of programs implemented at the 2018 event. Great efforts are being made to increase participation in the National Education Conference and ensure that the community members who are unable to attend are still able to take part and share the experience. We plan to increase both social media integration and enhance the coverage of the conference with a larger scope and greater quality of our remote feed. We will continue to create, explore new trends and evaluate robust strategies to increase online participation. The National Education Conference will again provide a community engagement forum for attendees to interact and learn about Foundation programs that they can become involved in, including research, fundraising, and support groups. Clinical Resource Center physicians and Alpha-1 experts will participate in a Meet the Experts session taking place throughout the conference weekend where attendees can 68 | P a g e
meet face-to-face with Alpha-1 specialists and receive answers to their personal questions. Evaluation and idea-generation continue in an effort to ensure the most beneficial use of pre-conference days Thursday and Friday.
We plan to bring many targeted opportunities to the Alpha-1 community at the 2018 National Patient Education Conference. Caregiving and Alpha-1 Kids will continue to have a presence and enhanced community engagement programs in those areas should drive impactful sessions. Additionally, there is value in continued and elevated engagement and will offer “more seasoned�’ attendees and community leaders a Leadership and Engagement Track on Saturday afternoon. The session facilitators and speakers will give those community members tips, tools and training on how to take that next step to become leaders. Finally, we recognized that the Chicago location had potential to attract the largest attendance at a National Education Conference to date and it did. In fact, at 652 attendees it was larger than we even predicted. Contract management and demographic studies have been conducted and appropriate actions will be made to accommodate the same or larger crowds in San Francisco. All efforts will be made to solicit, manage and diversify the revenue stream necessary to serve our unique, growing and engaged community.
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Alpha-1 Kids & Young Adults When a child is diagnosed with a rare condition, it can be devastating to a family. The Alpha-1 Foundation aims to assist these families with targeted information to ease their initial anxiety. The Alpha-1 Kids program provides information to parents of Alpha-1 infants, children, and teens about their child’s diagnosis and provides support, information and data about its impact. An Alpha-1 Kids committee, comprised of parents of Alpha-1 affected children, oversees the programs and services. It is also responsible for assessing the needs of the Alpha-1 Kids families, and recommending new programs and resources. A grant entitled, the Robert Seigman Memorial Scholarship, is for newly diagnosed and returning families to attend the National Education Conference and is distributed to families every year. The Foundation acknowledges the unique needs that young adults affected by Alpha-1 have and realize they require support as they transition from their parents’ care and into independent adults. An appropriate program to meet those needs is underway and being led by a technology savvy staff member and key young adult participants.
Accomplishments Through the Alpha-1 Kids program, the following was provided: The Robert Seigman Memorial Scholarship provided 7 full scholarships for families to attend the National Education Conference and hosted 32 children in the Alpha-1 Kids room. Three additional families were provided with assistance for travel and/or registration related costs for the 2017 National Education Conference An Alpha-1 Kids and Teen program at the National Education Conference that included rooms for Alpha1 Kids to gather, a meet and greet session conducive to sharing valuable information through discussions, networking, counsel, mentoring and support Alpha-1 Kids booklets were distributed at Education Days, the National Conference and through fulfillment requests made on our website. In FY2017 these publications went under review and revision by the Educational Materials Working Group. Accordingly, downloads of the electronic copy available at alpha1.org have been the sole mean of distribution this year. There were 3,659 visitors to the Alpha-1 Kids page that houses the books for download. That readership came from 56 different countries. The Alpha-1 Foundation provides a series of meetings for the Alpha-1 Families Virtual Support Group that specifically targets parents with information relevant to their needs. • •
It is the largest Virtual Group This group was invited to participate in 6 Virtual Support Group meetings to address issues suggested by the parent committee and/or suggested from surveys of parents 70 | P a g e
Topics this year included: o o o o o o
Liver Research Update – Jeffrey Teckman, MD Research Registry & Clinical Trials Update – Charlie Strange, MD Questions & Answers Session – Experienced Alpha-1 Parents Alpha-1 Foundation State of the Union Address – Henry Moehring, President & CEO Is it time for Newborn Testing? – Adam Wanner, MD, Scientific Director Caregiving
Young Adults Five young adults (age 18-30) comprised a focus group at the 2016 National Education Conference. Discussion of the best way to reach and serve the young adult community was discussed, as well as opportunities to engage this group in leadership and community opportunities. A closed Facebook community was created and leadership opportunities were discussed in the Nominating and Governance Board Committee of the Alpha-1 Foundation.
Approach The Alpha-1 Kids program will develop and implement new educational programming and other services as identified by the community. Goals for this year include: o
The Community Engagement Advisory Committee identified the target audiences of parents of Alpha-1 kids (caregivers), teens and young adults as audiences in need of evaluation to determine service and engagement gaps. Surveys unique to each audience will be created and responses analyzed. Desired outcomes are prioritization of needs and programs required to address wellness, monitoring of disease progression and audience engagement in the Alpha-1 community.
o
Continuing to provide the Robert Seigman Scholarship Program for travel and registration expenses for the National Education Conference for newly diagnosed and returning families, and enhance the Alpha-1 Kids and Teen program at the National Education Conference
o
Conducting the Alpha-1 Families Virtual Support Group on a bi-monthly basis providing relevant news, topics and support to families affected by Alpha-1.
Young adults in our community have unique needs that span from disease management, life and career planning and being caretakers for a parent affected by Alpha-1. Gaps between current and desired programs needed for young adults have been identified and the determination of the most effective programs and/or tools to address those gaps is underway. To initiate these efforts, a Young Adult Group has been organized to garner greater input about the service gaps, prioritize related projects and strategize on an implementation plan.
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National Awareness Raising awareness has always been at the heart of everything we do at the Foundation. It has long been our belief that awareness is vital to early and proper diagnosis of Alpha-1 Antitrypsin Deficiency which, in turn, leads to improved approaches to care. An integral part of the Foundation’s mission is to increase awareness and detection of Alpha-1. We aim to accomplish this through many avenues. We are making an impact by offering volunteers the tools and resources needed to create awareness in their hometown, to educate their families, physicians, nurses and other healthcare professionals. Through awareness and outreach, we can identify new patients and provide them the vital support necessary to cope with the impact of this genetic condition.
Accomplishments The Foundation created a few successful campaigns to create awareness this year. Most importantly, sustainable platforms for awareness were created to be used in the near future. For example, the campaigns for Rare Disease Day, Alpha-1 Awareness Month and our organization’s and community’s work on the COPD Action plan illustrate this approach. The Alpha-1 Foundation is also a part of many collaborative relationships that lend to increased awareness and opportunities to lead in both the rare disease and pulmonary space. Rare Disease Day Rare Disease Day 2017 (Feb. 28), with the theme of “Research,” recognized the crucial role that patients play in the work that will one day lead to a cure for diseases like Alpha-1. The Foundation encouraged Alphas to advocate for research, fund research, partner in research projects and participate in clinical trials. The Alpha-1 Foundation, in conjunction with the National Organization for Rare Disorders (NORD), spread awareness about Alpha-1 on Rare Disease Day and prepared Alphas to get involved. We published a website story on Rare Disease Day on Feb. 8 and described what Alphas were preparing to do to commemorate it. The story focused on Alpha, Jackie English, co-leader of the Open Arms for Alpha-1 Support Group in Peoria, Illinois. Her group held a 5K awareness run last September, and in previous years has held Alpha-1 awareness volleyball tournaments. In addition, the Jackie (Carey) English Alpha-1 Demolition Derby also raises awareness of Alpha-1. On Feb. 28 the Foundation published a story on its website about Ken Benson, Chair of the Foundation’s Public Policy Working Group. Benson is a firm believer in research and clinical trials. For years, the lungand liver-affected Alpha has allowed scientists to closely examine how his body works in study after study. He has participated in the COPDGene study, the Foundation-sponsored five-year study of Alpha-1 liver disease in adults; a study of an inhaled augmentation therapy delivery system; and a study of bacteria in the lungs of Alphas. Continuing throughout the month of February, the Foundation posted messages, images and graphics on our website and social media platforms to promote Rare Disease Day. On February 1st we changed our social media profile images and started a countdown to Rare Disease Day, February 28th. The Foundation announced Rare Disease Day with graphics and messages on all social media platforms including Facebook, Twitter, Instagram and LinkedIn. 72 | P a g e
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The most popular post was the staff photo below. It reached 17,523 people, earning 465 likes and 222 shares on Facebook:
Alpha-1 Awareness Month Last year’s Alpha-1 Awareness Month plan included a robust set of activities on multiple platforms including: a dedicated web landing page, a digital toolkit, a press release, web stories, “how to” webinars, email blasts, a social media campaign, Virtual Walks around the country, and 27 state proclamations. We also promoted Alpha-1 Awareness Month with a full-page poster in the winter edition of ALPHA-1-To-One magazine encouraging the community to increase awareness of Alpha-1 throughout the year. Web Landing Page & Digital Toolkit A dedicated awareness month landing page – www.alpha1.org/awareness - was developed with a digital toolkit featuring: • • • •
The “Could it be Alpha-1?” Whiteboard video Optimized social media images including profile pictures and headers Shareable social media content and images Awareness resources including sample emails, articles, printable flyers and fact sheets
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From October 24th to November 30th: • • •
There were over 2,500 unique visits to the page [more than double the # of visits in November 2015] 63% of visitors accessed the page via a mobile device [a 10% increase over November 2015] There were over 3,200 referrals from Facebook to our website [an 18% increase over November 2015]
Press Release & Web Stories The Foundation kicked off Alpha-1 Awareness Month on October 24th with a press release that was picked up by 207 news outlets. Among those who posted the release on their website were over 150 local newspapers and TV stations, including the Business Journal, Miami Herald and the StarTribune. Five Alpha-1 Awareness stories on our website were viewed 647 times. Here is a list of the Alpha-1 Awareness Month stories that were published on the website this year: Press Release: November is Alpha-1 Awareness Month The Alpha-1 Foundation has marked November as Alpha-1 Awareness Month, with several activities designed to increase knowledge of Alpha-1 Antitrypsin Deficiency (Alpha-1). Throughout November, individuals who have Alpha-1 and those who are affected by the condition are holding educational events, participating in fundraisers for research to find a cure, and sharing their stories about the challenges and successes of living with Alpha-1. International powerlifter raises awareness of Alpha-1 in Miami When Karen Skålvoll, a Norwegian Alpha, began lifting weights two years ago, she was unable to get the 45-pound bar – without any weights on it – off the floor. The lung-affected Alpha (who had been told just four years earlier that she would not live to see the next year) did not quit. She has greatly increased her strength; deadlifting 225 pounds and squatting 200 pounds. On November 5th, she competed in Miami Might, a powerlifting competition in Doral, Florida (near Miami) where she used her oxygen tank and raised awareness of her condition during Alpha-1 Awareness Month. Brother, sister team up to fight Alpha-1 in Naples, Florida Casey Wolff, a Naples, Florida Alpha, is determined to raise awareness of his condition to encourage faster diagnosis, better treatment and, ultimately, a cure. He has joined his sister, Wendy Becker Payton, and another resident who has the condition, Steve Jenkins, in forming an Alpha-1 support group. The group drew nearly three dozen at an inaugural meeting in January. At the group’s urging, the city of Naples proclaimed the month of November as Alpha-1 Awareness Month, which dovetails into a national awareness effort surrounding the condition. 75 | P a g e
Support group leader: Alpha-1 is serious but not well known Robert Sandhaus, MD, PhD, clinical director of the Alpha-1 Foundation and medical director of AlphaNet, spoke during Alpha-1 Awareness Month in Cheyenne, Wyoming about the condition he has researched for 36 years. Nadine Peterson of Cheyenne, who is an Alpha, was at the program and said she has benefited greatly from Sandhaus’ advice. Peterson is the Alpha-1 support group leader for Cheyenne. She knows of seven people there who have Alpha-1, but said there likely are many more. “I can live pretty much a normal life. I want to thank Sandhaus for dedicating his career to helping people like me,” she said to the group at the meeting. “It is a debilitating disease, and nobody knows anything about it.” “How To” Webinars & Email Blasts How To Webinars The Foundation hosted three “How To” webinars leading up to Alpha-1 Awareness Month, facilitated by Foundation staff members. The purpose of the webinars was to prepare the community and guide them through easy ways to increase awareness of Alpha-1: • • •
How to Set Up a Virtual Walk – October 3rd o 25 live participants, (webinar not recorded due to platform error) How to Become an Alpha-1 Advocate & Current Grassroots Efforts – October 4th o 25 live participants, 45 views online to date How to Tell Your Alpha-1 Story – October 25th o 29 live participants, 105 views online to date
Email Blasts
Email Webinar Announcement 2nd Webinar Announcement Awareness Month Kickoff Thanksgiving Email End of Awareness Month
Date 10/2/16 10/20/16 11/1/16 11/23/16 11/30/16
Open Rate 15% 18% 19% 17% 19%
Social Media Facebook Throughout the month of November, Foundation posts on Facebook received over 4,250 reactions (previously called ‘likes’), 2,115 shares (when a person shares the post on their page it increases the post’s reach exponentially to people who do not necessarily follow the Foundation), and 315 comments. Reactions, shares and comments are all direct interactions that Foundation followers and their Facebook friends have with Foundation posts. The most liked post with 463 likes and 237 shares was the photo to the right.
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Notable Comments: • •
“Love it, sharing! If I had a dollar for every time a medical professional asked my husband "Do you still smoke?" “I was told I had asthma for much of my adult life. Found out I have Alpha-1. It took many doctors and too many years. By the time I was diagnosed, I needed oxygen. If you have asthma and nothing helps, go to a pulmonologist or your primary doctor and get tested!”
Instagram Throughout the month of November, Foundation posts on Instagram received nearly 1,000 likes and four of the top posts made over 2,000 impressions. Top Posts:
604 impressions
542 impressions
553 impressions
533 impressions
Notable Comments: • •
“Doctors need to get educated because for 10 years I was told COPD and never smoked a day in my life! It was like they didn't believe me! One day, a new doctor to me, tested me for Alpha-1! I'm a carrier of Alpha-1!” “I was amazed to find out how many doctors didn't know anything about Alpha-1. Even more amazed to find out that most respiratory therapists are totally ignorant when it comes to it.”
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Virtual Walks The Alpha-1 Virtual Walk – You can walk anywhere, anytime during the month of November. The November Virtual Walks raised over $61,000 in community dollars. Thirty two states participated in the Virtual Walk. Over 1,130 people wore their purple shirts and posted pictures across social media platforms. The Miami office hosted the local Support Group and organized an office team and walk. Industry partners also organized virtual walks at their office locations.
Proclamations Support Group Leaders and AlphaNet Coordinators around the country teamed up to secure 27 State Proclamations in: Arizona, Arkansas, Connecticut, Georgia, Idaho, Illinois, Indiana, Kansas, Kentucky, Louisiana, Massachusetts, Michigan, Minnesota, Missouri, Nebraska, New Mexico, New York, North Carolina, Ohio, Oklahoma, South Carolina, Tennessee, Utah, Virginia, Washington, West Virginia, and Wyoming. There were also five City Proclamations secured in: • • • • •
Gainesville, FL Naples, FL Pensacola, FL Schenectady, NY Schenectady, NY City Council
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Other Collaborative Relationships for Alpha-1 Awareness Alpha-1 Antitrypsin Deficiency was the focus of a Meet the Experts session at the 2017 American Thoracic Society’s (ATS) international conference. A general session on participation in research was held in the morning and followed by afternoon breakout sessions. Invitations were broadly distributed via both ATS and the Alpha-1 Foundation. Alpha-1 specialists Robert Sandhaus, MD and Gerard Turino, MD were there to discuss the condition with attendees. The Alpha-1 breakout session attendees included COPD patients curious about testing, Alphas with bronchiectasis and patients with Nontuberculous Mycobacteria (NTM). The Alpha-1 Foundation is a new member of the Clinical Trials Transformation Initiative (CTTI), with a designated staff member on the Steering Committee. The committee is comprised of industry, government agency and other patient advocacy groups. The mission it to create recommendations that will add innovative solutions to burdensome clinical trial design and process. The Alpha-1 Foundation was invited to an expert meeting on Scientific and Technological Issues Surrounding the Use of Mobile Devices in Clinical Trials and is hopeful our community will be used as a pilot population in the resulting recommendation implementation. Awareness of Alpha-1 Antitrypsin Deficiency in the National Institutes of Health continues to be garnered via coalitions of patient advocacy groups in both the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the National Center for Advancing Translational Sciences (NCATS). In the case of NCATS, and Alpha-1 Foundation holds the Chair position in the Coalition of Patient Advocacy Groups (CPAG) and is Co-Chair of the over-arching Rare Disease Clinical Research Network.
Approach The Foundation will continue to mobilize and engage the community in awareness and outreach activities as well as provide the tools and resources needed to promote early diagnosis and any community efforts needed in the implementation of the COPD National Action Plan. Support Group Leaders will continue to be encouraged to participate in respiratory and rare disease events either as speakers or as an exhibitor and arrange for Alpha-1 physicians to speak. Their efforts will also be shared on social media and E-Newsletters to encourage participation and maximize visibility. Tools created for Rare Disease Day and National Awareness Month will be the cornerstone of many of the Foundation’s awareness efforts. All pieces are adaptable by audience and will continue to be used to prepare individuals to speak at various venues and events and raise awareness of Alpha-1. The Foundation continues our leadership at the American Thoracic Society (ATS) with a designated staff member on the ATS Public Advisory Roundtable (PAR). As a PAR member, the Alpha-1 Foundation and Alpha-1 will be showcased during an awareness week. A dedicated webpage on the ATS website will highlight Alpha-1 for the entire week. The awareness week will end with a live event on Alpha-1 that will be a globally broadcasted webinar. The Foundation will work closely to develop the content for the webpage and the live event. The Foundation will also solicit our Alpha-1 experts to participate in a Meet the Experts session at the ATS International Conference in 2018. The Alpha-1 Foundation and community are also represented on the Rare Lung Disease Consortium and will take a leadership role at a related conference in the fall of 2018. The conference will represent 79 | P a g e
multiple rare lung diseases and the 3-day agenda will target patients, healthcare providers, industry and investigators. In a newly invigorated relationship, the American Liver Foundation will be posting the Alpha-1 support group meeting calendar on their regional websites. This is a valuable opportunity to engage Alpha-1 liver patients and ensure they have visibility of the resources at the Foundation, knowledge of our family testing program and a path into valuable programs like the Risk Evaluation to Achieve Continued Health program (REACH) at AlphaNet. It is also a partnership we plan to utilize in an effort to bring further awareness of Alpha-1 to the associated healthcare professionals. We will continue to collaborate with strategic alliances that we share common goals and target audiences with. As in 2017, Alpha-1 patient-representatives will work closely with the American Association of Respiratory Care (AARC), the American Thoracic Society (ATS), local health fairs and the American Lung Association (ALA) to bring Alpha-1 awareness to the professional and patient audiences at their events. Alphas will be present to distribute literature and resources and we will continue to request opportunities to present their patient story, discuss detection, family testing and create valuable awareness by providing breakout sessions on Alpha-1 at these events. As part of our ongoing efforts, the Foundation will hire a company to assist with full utilization of a Google grant we received. The grant provides us free advertising on Google which brings a potential flow of a large amount of free ads.
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Genetic Counseling Program The Alpha-1 diagnosis is often delivered remotely or by a healthcare provider who has less than expert knowledge about Alpha-1. With detection efforts and resulting diagnoses increasing, it is vital that the newly diagnosed, their family members and their healthcare team understand the results and what it means to both the patient and other family members. The Alpha-1 Genetic Counseling Program provides that comprehensive knowledge and education, as well as vital referrals to other supportive programs of the Foundation. It is a free telephone-based genetic counseling program for patients, family members, and healthcare professionals. The program operates under the direction of Dr. Charlie Strange at the Medical University of South Carolina (MUSC) and Kimberly Brown, is the program’s Certified Genetic Counselor, responsible for the full scope of activities of the program. These include: • • • • • • • • •
Provide information about Alpha-1, its genetics, inheritance and symptoms Provide an understanding of the types of testing available, the genetic testing process and explanation of the results Help individuals understand and adapt to the medical, psychological and familial implications of genetic contributions to disease Provide supportive counseling and referral to Alpha-1 community support and educational resources Provide the first line of expert information and support for families identified by the Foundation’s Family Testing initiatives to facilitate a timely and accurate diagnosis among family members Assist callers with finding a physician that is knowledgeable about Alpha-1 in their area Promote informed choices and lifestyle changes for adaptation to the risk of the condition and reviews available options with the family Aid healthcare providers with interpretation of test results and provide additional information about Alpha-1 Provide advice and counsel to medical professionals regarding how to discuss the effects Alpha-1 may have on patients
As part of the program’s outreach and education, our Genetic Counselor also makes presentations to Support Groups, at Alpha-1 educational programs, Virtual Support Group calls, and webinars. Topics include: Testing for Alpha-1, Importance of Family Testing, Family Planning, Coping Positively with an Alpha-1 Diagnosis, Alpha-1 Teens and Peer Pressure, and Issues for the Alpha-1 Young Adult. Since its inception in 2007, the Genetic Counseling Program has grown to become an important resource in the Alpha-1 community and has assisted over 5,000 individuals in understanding their complex diagnosis and provided the psychological, medical and familial support and educational information.
Accomplishments The utilization of the Genetic Counseling Program continues to increase. The program received a total of 709 new calls this year, and an additional 110 follow-up calls and 120 emails. Details of call volume are described below. The program continued to receive a strong base of calls from Alphas, family members, healthcare providers and people considering testing. Callers were assisted by personalized genetic counseling, results interpretation and resource referrals. The genetic counselor assisted many callers in 81 | P a g e
understanding Alpha-1 and related symptoms, test results and testing options, risk for family members and related concerns and services. There were many questions about the F, I and other rare alleles this year. The genetic counselor collaborated with the Alpha-1 Coded Testing (ACT) study to update and improve results letters and worked with the Alpha-1 Research Registry to advance Alpha-1 awareness and knowledge through research. The Genetic Counseling Program remains a valuable resource to the Alpha-1 and healthcare communities. In FY 2017, the genetic counselor spoke at 5 Regional Education Days (Pittsburgh, Charleston, San Francisco, Austin, Atlanta), at the Alpha-1 National Education Conference (Chicago), presented to support groups (Arkansas, Illinois) and at the Portland, OR Education Day. She exhibited for the Foundation at the National Society of Genetic Counselors (NSGC) Annual Education Conference (Seattle), and presented original research on the MZ Carrier Genomics Study at the American Thoracic Society meeting (Washington, DC). The genetic counselor provided clinical instruction in Alpha-1 to medical students at MUSC and genetic counseling students at the University of South Carolina. The genetic counselor provided one-on-one consultations to attendees at National Conference through the Meet the Experts sessions. Connections made with patients and families, healthcare providers and industry partners facilitated referrals to and usage of the Genetic Counseling Program. The genetic counselor collaborated with the DNA & Tissue Bank on quality improvement of referrals and result delivery, wrote an article about the new 23andMe testing for Alpha-1 and prepared the program for new inquiries from those people tested by 23andMe. Call breakdown The call volume of over 700 individuals indicates stable program utilization and that many new individuals are interested in Alpha-1 or have been tested. Return call volume of over 100 indicates engagement over time and that individuals have confidence in the Genetic Counseling Program to repeat contact as more information is desired. May 2017 had highest call volume of the year, with 85 new calls. The 4th quarter of FY 2017 produced the highest call volume (197), while the 2nd quarter had the lowest (167). The FY 2017 average number of new calls per month was 59. It is the genetic counselor’s impression that Education days, presence at conferences, speaking with industry partners, and speaking with support groups generates an increased call base in the weeks following the program. Overall, the call volume fluctuation seems to be within normal limits for this program.
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FY 2017 New Callers (All, N= 709) Deficient 12% Health Professional 27%
Family Member 18%
Carrier 30%
Other MM 7% 6%
New Caller Status The distribution of callers remained similar to past years. The most common caller categories are carriers and healthcare providers, and the portion of both increased slightly from last year. Family members made up 18% of this year’s call volume, which is consistent with last year. A total of 84 callers this year were severely deficient. The majority were new diagnoses calling for initial explanation, information and recommendations. When only individuals with known genotypes are analyzed (healthcare providers and untested excluded), carriers make up 61% of results calls indicating that this is an important category for research and consistent and accessible information. Initial Reason for Call Explanation of results is the most common reason that people contact the Genetic Counseling Program. Patients under medical evaluation, ACT Study participants, and healthcare providers commonly call for results interpretation and discussion. This category increased from 27% of calls last year to 36% of calls this year. “Other� reasons include personal symptom complaints, checking on the status of an ACT Study kit, insurance and billing questions, requests for records, information about other genetic conditions, requests for patient results or clinical lab supplies, augmentation assistance, MUSC scheduling, research participation, initial contact for labs, psychosocial counseling only, and other various reasons. When considered together these are collectively common. Efforts are being made to capture sub-categories. Testing options remains the 3rd most common call category. Many family members and individuals looking for a reason for their symptoms call to find out about being tested for Alpha-1. These callers are given information about free and confidential testing, and other testing options as appropriate. Some healthcare providers also call to discuss which patients should be tested and how to order testing.
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0% 2% 1%
2%
FY 2017 Reason for Call
0% 3%
Explanation of Results Testing Options About Alpha-1 36%
24%
Contact UFL Fam. Mem. Dx Other Support groups Unknown
4% 2%
Find an MD 7%
19%
Obtaining Services Genetic Discrimination Treatment Options
Top Topics Discussed The most common topics this year are meaning of genotypes, explanation of results, and testing options. Symptoms, “other” and inheritance also remain very common. “Other” encompasses topics that are important to the caller, such as personal concerns, other genetics questions, and topics not listed for separate capture in the database. Additionally, when callers are not familiar with Alpha-1 and related resources, treatments, and recommendations the genetic counselor tries to educate and engage them in additional topics that will be helpful. This provides the best comprehensive resource, triage and connection to the community. Many other topics are also discussed and captured, but with lower frequency, including genetic discrimination, transplants, reproductive options and others. All callers are referred to the Alpha-1 Foundation.
FY 2017 Top 10 Topics Discussed 300 250 200 150 100 50 0
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Referral Source The number of annual calls that came from test results are at an all-time high at over 200. This includes healthcare providers and individuals who received test results clinically or through direct to consumer testing. Those tested through the ACT Study make up another common referral category. The Alpha-1 Foundation was the second most common way that people learn about the Genetic Counseling Program, with the website, patient information line, brochures, and events being frequently mentioned. In the 4th quarter of this year, 23andMe began reporting on Alpha-1 traits.
FY 2017 Referral Source 200 180 160 140 120 100 80 60 40 20 0
Approach As more individuals utilize the testing opportunities provided by the Alpha-1 Foundation and other alternative testing options, there will be an increased need for counseling to assist individuals in making informed decisions. There is now a unique reality where individuals, largely asymptomatic, are receiving “indications of predispositionâ€? to disease. It is expected that our services will continue to see an increase from that cohort. Sensitive topics such as when to test children, when and how to share information with family members, and family-planning options, will be of utmost importance. The Genetic Counseling Program will meet this need and plans to develop and implement new ways to deliver educational information to the patient community. The goals of the Genetic Counseling Program for this year are: •
To continue to provide clinical genetic counseling services by telephone to patients, family members and healthcare providers 85 | P a g e
•
To continue to participate both in person and virtually at Support Group meetings, educational programs, webinars, and conference calls and make specific presentations to industry members as requested
•
To serve as an important component in the Foundation’s Family Testing Program
•
To assist the Foundation in the sustainment of the Continued Education program for genetic counselors in the Education series and present opportunities as appropriate
•
To provide expertise in the Foundation’s decisions to exhibit and participate in genetic counseling educational forums and conferences and attend them on our behalf
•
To evaluate and develop content on the rare alleles for inclusion on the Foundation’s website
•
To participate in the development of Alpha-1 Young Adult tools and related technological platform content
•
To continue to inform physicians and researchers in the field of Alpha-1 diagnosis or sequencing of the particular variants that result in the notification of predisposition/risk for disease development
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Detection & Research Alpha-1 Research Registry The Alpha-1 Foundation’s Research Registry is a confidential database of diagnosed Alphas and carriers willing and able to participate in research studies and clinical trials for new therapies. The Registry was established in 1997 by the Alpha-1 Foundation to aid research initiatives and promote the development of improved treatments and ultimately a cure for Alpha-1 Antitrypsin Deficiency. Located at the Medical University of South Carolina (MUSC) in Charleston, the Registry employs procedures that ensure the most stringent confidentiality of participants. The Alpha-1 Research Registry continues to be successfully guided under the direction of Charlie Strange, MD.
Currently there are over 5,800 individuals enrolled in the Registry (and over 7,000 enrolled since inception). This includes over 100 patients that are enrolled in the Clinical Resource Center (CRC) Registry. The Registry represents the largest cohort of Alphas in the world (97% of whom live in the U.S.). Individuals of all ages who are diagnosed with Alpha-1 Antitrypsin Deficiency and individuals identified as carriers of at least one deficient allele are encouraged to enroll. The Registry offers ongoing opportunities to participate directly in clinical trials of new therapeutic approaches in addition to other research they can participate in. The Registry website has been revitalized to include user friendly information about available studies to enroll in. Included is an unbranded summary of studies available on the Clinicaltrials.gov website with an identifier number to quickly access the study. Also included is information on informed consent, criteria, and protocols. Patient participation in research has never been more critical than it is today. Enhanced education and awareness of the clinical research process has significantly decreased recruitment challenges and a strong support network has contributed to retention in clinical trials. Both factors highlight the importance of this robust Registry in advancing medical science. 87 | P a g e
Accomplishments Patient information in the Research Registry was enhanced with the completion of the pilot program of the CRC Registry. This Registry ran parallel to the Legacy Registry (the Foundation’s original Registry since inception) and had the added component of providing biological samples as well as lung function test results. There were 6 CRCs enrolling patients at their facilities. Patients visited these designated sites and volunteered to enroll in an open access database. Patient information provided was retained in a uniform, longitudinal, complete and accurate manner and is organized, de-identified (satisfying HIPAA safe harbor rules for the USA) and made available for the public to query. The 116 patients enrolled mark the initiation of a rich, fully integrated dataset that will attract new researchers. Additionally, it can provide open access to Alpha-1 research publications. Discussions are currently underway to determine the next steps of this pilot program. Of the 5,800 Registry participants, 51% are severely deficient (ZZ or SZ) and 43% are carriers. Other genotype combinations now include F and I as well. Of the total number of enrollees, 63% identify as being lung affected. There are 216 children (under the age of 18) enrolled. Women continue to be the largest cohort representing 63% of enrollees. This year has also seen a significant increase in the percentage of on-line applications which has grown to 76% of all enrollees. One of the largest obstacles in research is finding a sufficient number of volunteers to participate in studies. This resource provides investigators with easy access to a large core of ready and willing participants in the Alpha-1 community that are eager to take part in research on many levels and do their part in the search for a cure. In addition to clinical trials, being enrolled in the Registry affords the opportunity to participate in survey studies to determine health care costs, environmental risks, and assist in collection of other specific data to advance scientific and medical knowledge about Alpha-1. Since inception, the Alpha-1 Foundation Research Registry has recruited for 79 studies from investigators worldwide. The service of the Registry is available free of charge to all Alpha-1 investigators to recruit qualified patients for clinical trials and research studies. It is a valuable asset to the research community and facilitates the evaluation of new therapies and important research.
Approach Increased participation in the Research Registry is a direct result of the ongoing promotion on the Foundation website and at all Foundation sponsored events. The Research Registry coordinator attends all 6 Education Days as well as the annual National Education Conference. These venues provide the perfect arena for direct personal contact with the Alpha community and consequently produce a marked increase in enrollment. Additionally, all physicians in the nationwide Clinical Resource Center (CRC) network are encouraged to urge their patients to enroll in the Registry.
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Family Testing / Testing Days The Alpha-1 Foundation’s family testing program, It’s All in the Family, is designed to encourage those diagnosed with Alpha-1 to talk to their family members about getting tested for Alpha-1 Antitrypsin Deficiency.
Accomplishments The psycho-social burden of a genetic disease is difficult to share and having talking points eases the burden. The Family Testing brochure includes a sample letter to family members that can easily be shared with relatives. The Foundation’s genetic counselor is also a valuable service in helping patients understand one’s genetic risk for developing lung and liver disease and communicating that information to family. The Foundation has been using social media as well as timed emails to remind Alphas and their family members of the importance of getting tested. This year, family testing has been bolstered by a concerted social media campaign on Facebook and Twitter. This platform serves to remind Alphas to talk with their family members about getting tested and easily directs them to suggestions and tools (brochures/ sample family letters) available on our website. The Clinical Resource Center (CRC) network is instrumental in promoting Family Testing. This year, four testing days were held in collaboration with a CRC physician. Each Center received test kits, genetic counseling brochures, and educational materials. Testing days are held in cooperation with our industry partners and the COPD Foundation. Targeted testing is encouraged and conducted through COPD screening. This year testing days were held in Waterbury, CT, Weston, FL, Lewiston, ME and Columbia, MD. Efforts to secure testing days in other venues have been plagued with significant barriers. Events scheduled for Minneapolis, MN and Danbury, CT were cancelled due to legal constraints of the participating facilities. Targeted testing remains an integral component of the national detection program. As we move forward, challenges in providing testing days will be addressed by working closely with industry partners, facility administration and the Alpha-1 community. The Foundation will continue to promote Family Testing across all programs. At the Alpha-1 National Education Conference, a themed “Alpha-1 Family Tree” was incorporated into the Foundation’s booth encouraging attendees to revisit the topic with their loved ones. All attendees were asked to sign a leaf of the tree. Most importantly, talking points around family gatherings were provided to help engage and motivate family members to be tested. Also, building on the experiences and lessons learned from testing events, the Foundation plans to hold additional testing days. The locations that are in the planning stages include Syracuse, NY and Lewiston, ME. 89 | P a g e
State of Florida Detection Program The State of Florida Alpha-1 Screening and Detection Program has been discontinued after 17 years. The program is no longer funded due to the State of Florida budgetary reduction. The success of this initiative has been a direct result of the good work of nearly 400 Florida healthcare providers and has resulted in over 31,000 Floridians being tested for Alpha-1 since 2001. In the past 17 years, the State of Florida Detection Program: • • • • •
Provided 68 Grand rounds to physicians Distributed educational materials at 170 exhibits and health fairs Conducted 34 educational days for Alpha-1 caregivers as well as the public Provided Alpha-1 speakers for 155 medically related conferences Provided 200 CMEs/CEUs to physicians and allied health professionals
This state-wide comprehensive program was created to identify Florida residents with Alpha-1 Antitrypsin Deficiency, assisting them in obtaining the appropriate medical treatment and, thereby, improving health outcomes and reducing healthcare costs for the state. This has been accomplished through the education of healthcare providers and patients, the distribution and processing of test kits, and early diagnosis. Testing was provided in every county in Florida with major regional sites located in Lakeland, Jacksonville, Tallahassee, Miami, Tampa, St. Petersburg, Naples and Ft. Myers. Individuals detected were provided assistance and support for follow up, treatment and care. The Florida Detection Program has been one of the most cost effective health care programs in Florida. Additional cost savings are realized through reduced hospital admissions, emergency room visits, pharmacy costs, physician visits and lost productivity. All Florida Alpha-1 test kits distributed were tracked by the Florida Detection Coordinator. Comprehensive detailed screening data obtained by the program indicate testing provider and county. This rich data source allows us to focus future activity as well as plan educational opportunities to encourage practice pattern change in a targeted geographical area. Prevalence data is also utilized to target areas of the State with high incidence of pulmonary disease. In FY 2017 an aggressive educational and testing campaign focused on the counties of Sumter and Lake (including The Villages, Florida) which maintain the highest incidence per capita of pulmonary disease in the nation. The Florida Detection Coordinators have garnered a list of pulmonologists and primary care physicians who serve The Villages. This will assist in developing future partnerships to incorporate Alpha-1 testing for all COPD patients. Since its inception 17 years ago, over 31,000 Floridians have been tested for Alpha-1 by the Florida Program. Of those tested, 12.1% have been identified as carriers (one abnormal allele), 2.1% have been identified with Alpha-1 (two abnormal alleles).
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Alpha-1 Coded Testing (ACT) Study The Alpha-1 Coded Testing (ACT) Study is a free and confidential research study based at the Medical University of South Carolina (MUSC) in Charleston. It enrolls individuals of all ages living in the United States, Canada, Puerto Rico and other U.S. territories. The study includes a research questionnaire and a finger-stick testing kit mailed to the individual's home. The purpose of the study is to investigate issues surrounding genetic testing, disease specific risks, and co-morbidities for Alpha-1 Antitrypsin Deficiency. The ACT Study evaluates the population demographics, reasons for testing, and outcomes through the confidential testing program. ACT provides a way for those at risk for Alpha-1, including family members of already diagnosed Alphas, to learn their Alpha-1 genotype. Each ACT participant is assigned a unique alpha-numeric code when they consent to be in the study. This code is saved in a secure database and written on the blood card. The “coded” blood card is sent to the Geneaidyx Lab for testing. Results are then sent to MUSC, linked with the code and mailed to the participant’s home, approximately 4 weeks after the sample is received. The results are not shared with the participant’s healthcare provider; however, patients are encouraged to talk with their provider about their results. Additionally, newly diagnosed patients are encouraged to join the Alpha-1 Foundation Research Registry. The ACT Study has enrolled over 33,840 individuals since 2001 collecting data on the impact of at-home genetic testing. Alpha-1 antitrypsin genotypes have been generated on 26,123 individuals. This year, severely deficient test results have returned at 5.1% and one deficient allele at 45% of tested individuals. Each year patients screened through the ACT Study significantly increases and last year was no exception to this upward trend. In FY 2017, 3,246 individuals were tested compared to 2,112 participants tested in FY 2014. This increase in testing supports the fact that physicians and patients are more aware of the at-risk factors, symptoms and recommendations for testing. The Alpha-1 Foundation is firmly committed to detection efforts. However, increased testing is coupled with increased costs and illuminates the need for increased funding.
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Nurse Practitioners & Respiratory Therapists As part of an outreach effort to both respiratory therapists and nurse practitioners, the Foundation has created a continuing education course to promote testing for Alpha-1 for at risk patients. We have partnered with the American Association for Respiratory Care (AARC) to formulate an online CRCE program consisting of 3 presentations by Alpha-1 experts – Drs. Jamie Stoller, Charlie Strange and Robert Sandhaus. The American Association for Respiratory Care (AARC) remains a strong strategic partner in educating Respiratory Therapists about Alpha-1. The CRCE online course for RTs is promoted on both our website as well as theirs and at the AARC national congress. Nearly 200 respiratory therapists have accessed the course this year on the AARC website. This year the course will be updated and hosted on the Foundation’s website. The course will also be linked to additional websites to include those sites which have significant respiratory therapist traffic. Plans include expanding the learning platform to an ondemand webcast available through accreditation partners with significant reach. With over 234,000 licensed Nurse Practitioners in the United States, they are first line providers and their awareness of Alpha-1 is of utmost importance in detecting Alpha-1. They have been providing primary, acute and specialty health care to patients of all ages for more than a half century. Their awareness and knowledge of this condition can increase the likelihood of a timely diagnosis and interventions to improve patient functioning, preventing further damage. Therefore, a similar program, like the RT course, was created to provide continuing education to nurse practitioners. This online course is in the process of being updated and relaunched. Dr. Jamie Stoller will author the new course which will equate to 1 CEU and be free to all participants. The Foundation’s website will host the course. The learning objectives will include how to: • • • • •
Recognize the many ways Alpha-1 Antitrypsin Deficiency presents clinically Improve understanding of the disease and the genetic background of the disorder Examine the data supporting augmentation therapy and how to manage these patients Overcome nonadherence through the use of communication techniques that may positively impact patient compliance Apply the use of key teaching strategies when educating patients that are newly diagnosed with Alpha-1 Antitrypsin Deficiency
This new venture will not only enhance traffic to our website, but will also provide the Foundation with advanced analytics not previously available to us. The format will include a pre- and post- test that requires a passing grade of 70% to obtain CEU credit. The course will be promoted at all Foundation exhibits and sponsored events. This includes a strong presence at the American Association of Nurse Practitioners (AANP) and the National Association of Pediatric Nurse Practitioners (NAPNAP) annual meetings. Additionally, we will partner with academic settings to extend our reach and provide easy access for our targeted audience. The success of this project will serve as the model for an Alpha-1 CME online course for physicians in the future. The Foundation will continue its partnership with the Nurse Practitioner Associates for Continuing Education (NPACE). Last year we exhibited at 10 conferences throughout the country. States in which conferences will take place this year include Nevada, Rhode Island, California, Georgia, Virginia, Florida, 92 | P a g e
South Carolina, Illinois, and Massachusetts. The hallmark of the Foundation’s exhibit is volunteer staffing by the Alpha community, many of whom are nurses and nurse practitioners themselves. By utilizing support group leaders and other volunteers that are well versed in telling their personal story, the early detection message to healthcare providers has a stellar delivery. This coming year our reach will include conferences in Maryland, Alabama, Missouri, North Carolina, Ohio, Michigan, Tennessee, Colorado and New York.
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Clinical Resource Centers The Clinical Resource Centers (CRCs) are a valuable component of the Alpha-1 Foundation’s efforts. The program was established with the goal to have centers with special interest in Alpha-1 to foster research and to provide the Alpha-1 community with information and physicians who offer specialized care. The CRC network has expanded to include academic centers and clinical settings with a known focus and expertise in Alpha-1. Over 95 physicians throughout the country provide care to Alphas and their families. These centers also serve as the conduit to research. Multi-center projects allow smaller sites to include their patients in research efforts. Currently, there are 84 CRC sites in 34 states and one in Canada. The Foundation continues to expand the CRC network and is grateful for referrals for possible candidates from our industry partners, other physicians and the Alpha-1 community. The mission to provide our community with easy access to Alpha-1 specialists remains a strong commitment of the Foundation. The CRC sites vary from individual and group private practices, to clinics and academic campuses. This year, we welcomed the first Federally Qualified Health Center (FQHC) in the network. FQHCs are community-based organizations that provide comprehensive primary care and preventive care, including health, oral, and mental health/substance abuse services to persons of all ages (regardless of their ability to pay or health insurance status). Additionally, sites in Mississippi and Oklahoma were designated as CRCs in response to seeking specialists in states where previously there had not been Foundation designated sites. All CRC sites were requested to update their information to ensure the most current information is posted on our website. Practice patterns change (retirement, transition to another practice, and/or health care system transformation) and consequently there have been changes to the sites that participate. The listing of each CRC will now only include one lung and one liver specialist at each site. Additionally, as part of the designation process, all CRC physicians must take a knowledge based exam. The test is sent to each physician directly. The confidential results are managed by an on-line learning platform that was purchased by the Foundation. This system helps assure that the community has access to practitioners that are well informed on Alpha-1. Many patients must travel a great distance to see a physician in the Clinical Resource Center network. The Foundation is committed to reducing that burden. The Alpha-1 Foundation’s Clinical Resource Center Access Program provides a one-time travel stipend of up to $500 per roundtrip travel to assist Alphas around the country to visit their nearest CRC for the first time. This program has helped 11 patients access their Alpha-1 clinician this year. The program offers the ability for patients to consult with a specialist who can explain results, provide health management strategies, and discuss augmentation therapy. Often times this is the only way that patients can get the answers that they need to manage their own condition. The biennial CRC Forum will be held in 2018 in September in Miami, in conjunction with the Investigators meeting. In response to feedback from the previous Forum requesting the allotment of more meeting time, the Forum will be expanded to include a full day’s agenda. This will provide additional time for networking with fellow CRCs, industry partners and investigators. A positive outcome from the 2016 meeting was that several collaborative projects involving multiple Clinical Resource Centers were created. The upcoming agenda will include a report on these projects, other current research studies, recruitment for Clinical Trials, community partnerships and innovative programming. Our industry sponsors will have an opportunity for engagement at the Forum. The feedback from the 94 | P a g e
attendees of the last Forum indicated that many of the Alpha-1 physicians are interested in objective data on replacement therapy and co-operative projects with industry. Additionally, a VIP reception will be held after the Forum for all CRC physicians and industry partners.
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Continuing Education for Physicians Educating healthcare providers remains a mission centric goal for the Foundation. We provide opportunities for healthcare practitioners to gain new knowledge so they can, in turn; provide the best care for their Alphas. An investment in knowledge enables us to educate and empower the next generation of health-care workers. Education remains an integral priority for advocating for an accurate diagnosis. The revised Clinical Practice Guidelines, The Diagnosis and Management of Alpha-1 Antitrypsin in Adults, has recently been published in the Journal of the COPD Foundation. This document will serve to help healthcare providers change their practice pattern to include testing all COPD patients for Alpha 1. However, instilling this tenet requires ongoing education and repetitive messaging.
Accomplishments Most primary care physicians access continuing education credits (CMEs) through Grand Rounds, which are often offered in practice venues. This method has proven to be an important technique in capturing the primary care physician audience. Most important, participant feedback indicates that many change their current practice pattern to include testing all patients with COPD for Alpha-1. This year, 10 Grand Rounds were held nationwide in a variety of hospital and clinic settings including: • • • • • • • • • •
Atlanta, GA College Park, MD Cutler Bay, FL Dallas, TX Drexel Hill, PA East Orange, NJ Ft. Meyers, FL Hoboken, NJ Houston, TX Jacksonville, FL
These meetings feature our Clinical Resource Center physicians as presenters and are often supported by Alpha-1 volunteers who provide educational material and insight. Live streaming the content enhances audience reach to include allied health professionals. The Alpha-1 Foundation Support Group Leaders often exhibit at these events and provide Alpha-1 collateral. By connecting directly with providers, these volunteers give a face to a rare disease that may have previously been unknown. An additional opportunity for Support Group Leaders to engage with physicians is available through our partnership with the National Association for Continuing Education (NACE). NACE has developed a 7 credit CME course for primary care physicians. Utilizing the patient community to convey their personal stories has given these presentations a vitality and connection to the patient perspective. This awareness underscores the need for detection efforts to be given priority and hopefully change practice patterns. This nationwide series includes a 1 hour presentation on Alpha-1. This year, the Foundation was able to present at 19 venues across the country including: 96 | P a g e
• • • • • • • • • • • • • • • • • •
Anaheim, CA Atlanta, GA Baltimore, MD Birmingham, AL Cleveland, OH Denver, CO Ft. Lauderdale, FL Houston, TX Miami, FL Nashville, TN Plantation, FL Raleigh, NC Sacramento, CA San Antonio, TX St. Louis, MO Tampa, FL Troy, MI Uniondale, NY
After six years of work, the revised Clinical Practice Guidelines, The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult, were published in the July 2016 edition of Chronic Obstructive Lung Diseases: Journal of COPD Foundation. These guidelines are a valuable tool as the Foundation strives to increase detection of Alpha-1 and provide science-based clinical care guidelines for the Alpha-1 Community. The guidelines are available for review at: http://a1f.org/clinical-guidelines. A broad digital campaign for distribution was implemented assuring that this plan included email communication to all internal and external partners requesting they share with their colleagues. Distribution also included the following: • • •
• •
Foundation Press release/Posting on Foundation website Article in ALPHA-One-To-1 magazine Posting on various partners websites/newsletters National Organization for Rare Disorders (NORD) American Association for Respiratory Care (AARC) American Medical Student Association (AMSA) American Association of Nurse Practitioners (AANP) Florida Academy of Physician Assistants (FAPA) American Osteopathic Association (AOA) American Lung Association (ALA) Periodic posting on Social Media platforms: Facebook and Twitter Post card with link to Guidelines was distributed at the European Respiratory Society International Conference in September and hard copies of the Guidelines are made available at all Foundation exhibits and sponsored events
Additionally, a user friendly Alpha-1 Foundation pocket consultant, based on the guidelines, is in development for distribution to healthcare providers. This will be available at all exhibits and sponsored events in an effort to broadly reach the healthcare provider and allied health community. 97 | P a g e
Approach We continue to partner with professional organizations to achieve a wide presence within the medical education arena. The goal is to market an Alpha-1 presentation to hospitals and clinics with a limited interest in rare disease. Consequently, we often insert the Alpha -1 message in COPD or asthma presentations that have been requested through our CRC physicians. The success of this series has led us to again pursue this learning platform in fiscal year 2018 with a commitment to hold additional Grand Rounds across the country. The Foundation will exhibit at ten of these events and will utilize staff, volunteers from the Alpha-1 community and members of the Board, Advisory Committees and Working Groups as resources to assist at the different venues.
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Medical Student Education In partnership with the National Organization for Rare Disorders (NORD), a Patient/Caregiver Speakers Bureau has been created. It consists of volunteers willing to share their stories to promote better understanding of the challenges of living with a rare disease. A core group of trained volunteers from the Alpha-1 community are prepared to respond to opportunities to speak to medical students on university campuses and at medical student conferences. The first opportunity took place last year. An Alpha-1 patient met with over 1,000 medical students at the annual convention of the American Medical Students Association (AMSA) in Washington, DC. Additionally, NORD is developing a video library on rare diseases for distribution to medical schools. This will contain a collection of 3 minute personal stories from patients and caregivers. Alpha-1 was one of the first to be interviewed for this project which will serve as an impactful educational tool for the next generation of health care providers. This year, for the first time, the Foundation also exhibited at the American Medical Student Association (AMSA) annual convention. It was affirming to note how many students recalled recent classroom information about Alpha-1. Most importantly, the interest was keen by students without prior knowledge. This outreach to students will continue not only through sponsored exhibits but also by responding to opportunities to speak to student groups.
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Meetings, Conferences and Events The Foundation’s mission is significantly served by conferences that bring together relevant stakeholders with the intent to promote scientific discovery, identify new approaches to the detection of Alpha-1 Antitrypsin Deficiency, educate physicians and patients on Alpha-1 and its management, discuss ethical issues, and advocate for the Foundation‘s patient and scientific community. Typically, the meeting participants include one or more of the stakeholder groups including academic scientists, physicians, industry, government agencies, other voluntary health organizations and patients. These meetings have been a high priority for the Foundation since inception as they are intended to spark interest in Alpha-1 and demonstrate the Foundation’s credibility within the rare disease community. The meetings and conferences can be loosely divided into two types, one focusing on basic, translational and clinical science of Alpha-1 Antitrypsin Deficiency and the other on advocacy and education. Both types are adequately represented in Table 1 that lists past and currently planned meetings sponsored by the Foundation.
Table 1. Alpha-1 Foundation Scientific, Advocacy and Educational Meetings Scientific Meetings • Therapies for Alpha-1 Antitrypsin Deficiency: 1999 • Aerosolized Therapies for Alpha-1 Antitrypsin Deficiency: 1999 • Alpha-1 Antitrypsin Deficiency and Other Conformational Diseases: 2000 • Alpha-1: The Challenge of a Genetic Condition: 2000 • Inflammatory Markers: 2001 • Epidemiological Aspects of Alpha-1 Antitrypsin Deficiency: 2002 • Stem Cell Therapies in Reparative Medicine: 2002 • Environmental, Occupational, and Genetic Risk: 2003 • Chronic Bronchial Injury in Humans & Models: 2004 • Alpha-1 Antitrypsin Deficiency and Other Liver Diseases Caused by Aggregated Proteins: 2006 • New Insights into the Biology of AAT: 2007 • Protein Misfolding and Lung Disease: 2010 • Biennial Investigators’ Meeting: 2010 • Biennial Investigators’ Meeting: 2012 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2013 • Biennial Investigators’ Meeting: 2014 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2015 • Biennial Investigators’ Meeting: 2016 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2017 Advocacy and Educational Meetings • Screening and Detection: 1999 • Computed Tomographic Scan Workshop: 2001 • Models of Emphysema: Speeding the Pace of Progress: 2002 • The Impact of Genetic Testing: Ethical, Legal, and Social Issues: 2003 100 | P a g e
• Quantitative Chest Tomography in COPD Research: 2008 • The Promise and Challenge of GINA: Is it Time for Newborn Screening for Alpha-1?: 2010 • New Formulations and Applications of Alpha-1 Antitrypsin: 2011 • Clinical Trial Design for Alpha-1 Antitrypsin Deficiency: A Model for Rare Diseases: 2014 • Can Cystic Fibrosis (CF) and Alpha-1 Antitrypsin Deficiency (AATD) Inform COPD?: 2015 • Ethical Issues Related to Clinical Research and Rare Diseases: 2016 • MZ Carrier State in Alpha-1 Antitrypsin Deficiency: 2017 The number of attendees at a conference is limited for logistical reasons. Therefore, there is a critical need to inform the entire interested community about the proceedings of the meeting. The Foundation has been successful in meeting the need by publishing meeting proceedings in peer-reviewed journals for distribution to a wide audience (Table 2). Table 2. Important publications of meeting proceedings of the Alpha-1 Foundation • • • • • • • •
Walsh JW, Wanner A. Quantitative chest tomography in COPD research. Proc Amer Thor Soc 2008; 9:873-945 Wanner A, De Arce A, Pardee E. Novel therapeutic uses of alpha-1 antitrypsin: A window to the future. J COPD 2012; 9:1–6 Wanner. A et al. Clinical trial design for alpha-1 antitrypsin deficiency: A model for rare diseases. J COPD F 2015; 2: 112-156 Teckman J et al. Appropriateness of newborn screening for alpha-1 antitrypsin deficiency. J Pediatr Gastroeneterol Nutr 2014; 58: 199-203 Wanner A et al. Can cystic fibrosis and alpha-1 antitrypsin deficiency inform COPD? Ann Am Thor Soc 2016; 13: 112- 198 Lomas D et al. Protein misfolding and obstructive lung disease. Proc Amer Thor Soc 2010; 7: 343415 Wanner A et al. Novel concepts in the pathogenesis and treatment of alpha-1 antitrypsin related lung disease. Ann Amer Thor Soc; in press Coors M et al. Ethical considerations in clinical trials in rare diseases.
We continue our efforts in organizing, promoting, and convening highly successful and impactful scientific meetings and conferences on Alpha-1. The highlight of our peer-reviewed in-cycle grants program, the Biennial Alpha-1 Investigators’ Meeting, was convened on October 14, 2016 in Miami, Florida. This meeting is vital to the mission of the Alpha-1 Foundation. Investigators who have been the recipients of Foundation grants during the two years preceding the meeting participate by presenting their work. It is a great way for the Foundation to showcase recently funded research findings and advances in the state of the cure while also affording our investigators a chance to interact, discuss, and present their research to various members of the Alpha-1 community. Over 120 people attended and 26 investigators presented updates on their Foundation-supported grants. In addition to investigators, the audience for this meeting consisted of Foundation donors, representatives from pharmaceutical and biotech companies, members of our Medical and Scientific Advisory Committee and Grants Advisory Committee (MASAC), and members of the Foundation’s Board of Directors.
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The Clinical Resource Center Forum was held in Miami, Florida on October 15, 2016. The purpose of this important conference was to inform the Clinical Resource Centers of the Foundation’s activities, to educate them on the management of Alpha-1 Antitrypsin Deficiency related lung and liver disease, and to engage them in patient outreach programs in their geographical area. There were 60 physicians in attendance and the Foundation plans to hold this event again in September 2018. The 3rd International Research Conference on Alpha-1 Antitrypsin and the 6th Alpha-1 Global Patient Congress were held on April 5-8, 2017, in Lisbon, Portugal. Both events brought together patients and scientists from around the world to discuss the latest developments in Alpha-1 Antitrypsin Deficiency (Alpha-1) research, clinical care and patient advocacy. On April 5-6, 32 leading researchers and physicians met during the 3rd International Research Conference on Alpha-1 Antitrypsin. The meeting addressed novel treatment paradigms for Alpha-1 and other conditions that have become targets for Alpha-1 augmentation therapy. During the first day of the conference, attendees had the chance to hear observations on the liver cell model; the induced progenitor stem cells to study potential therapies; the roll of macrophages for the gene delivery; and the investigating liver therapies in the Alpha-1 Z Mouse. Presentations from the second day of the meeting focused on new treatments for lung and liver disease (such as intramuscular and intra-pleural gene therapy; aerosol and antioxidant therapies; silencing RNA for liver disease and STC-GalNAc-conjugate approach to treat liver disease) and on new disease targets for Alpha-1 Antitrypsin, including diabetes, organ rejection, autoimmune disorders and viral infections. The Global Alpha-1 Antitrypsin Investigator and Physician Forum was held on November 3-4, 2016 in Dublin, Ireland. Alpha-1 Foundation arranged this forum to explore the feasibility, structure and 102 | P a g e
function of a global network of Alpha-1 investigators and clinicians with the intent to advance Alpha-1 research and quality patient care worldwide. Specifically, research funding, physician education and registry harmonization were critical discussion items. This forum consisted of experts in research, physician education and patient registries from Europe, North America, South America and Australia. The program was divided into three sessions entitled Global Research, Global Registries and Global Physician Education and Access to Care. All speakers presented information about existing models germane to their own country. It was our hope that the presentations would lead to a productive exchange of ideas on future collaboration on a global level. For this reason, ample time was reserved for discussion. The expected output of the meeting was a list of action items that could be moved forward under the umbrella of Alpha-1 Global. From May 21-23, 2017 members of the Alpha-1 Foundation staff attended the American Thoracic Society’s (ATS) 2017 International Conference held in Washington, DC. The Foundation participated as an exhibitor at this annual conference in order to grow awareness for its various research programs and to reach out to pulmonologists, respiratory therapists, and physicians from around the world. In addition to its participation at the exhibits at the ATS conference, the Foundation also hosted an annual grant awards reception to highlight the next chapter for the Foundation’s research program. This reception gives us an opportunity to officially announce and acknowledge our newly awarded grantees. The awards reception was held at the International Spy Museum on Monday, May 22nd and was a wellreceived event with over 150 attendees. In addition to scientific conferences, the Foundation reaches thousands of physicians and medical professionals through its exhibitions at major national and international medical meetings. Through this venue, the Foundation is able to create visibility and garner attention for its grants and awards program, as well as promote Alpha-1 awareness and education.
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The Foundation exhibited at various national meetings throughout the year, promoting awareness and encouraging testing for Alpha-1. These exhibits included major professional society meetings such as: the American Thoracic Society (ATS), American Association of Nurse Practitioners (AANP), COPD10USA, European Respiratory Society (ERS), American Association for Respiratory Care (AARC) and the American Association for the Study of Liver Diseases (AASLD). In addition to exhibits, the Foundation identified and provided speakers for many other national meetings. These speakers were able to reinforce the importance of testing for Alpha-1 as well as to convey any new clinical and research information to physicians, nurses, respiratory therapists and other health professionals.
Approach The Foundation’s Research Department is continuing its preparations for the various upcoming meetings and conferences scheduled to take place during the next year. Some of the meetings and conferences the Foundation will be participating in include the European Respiratory Society (ERS) annual meeting in September in Milan, Italy, the Medical and Scientific Advisory Committee (MASAC) meeting, the American Association for Respiratory Care (AARC) and the American Association for the Study of Liver Diseases (AASLD) meeting in October. The Foundation will host the 16th Gordon L. Snider Critical Issues Workshop on November 13, 2017 in Bethesda, Maryland. The workshop, entitled “MZ Carrier State in Alpha-1 Antitrypsin Deficiency”, will feature two expert-led sessions in the following areas: Carrier states in rare diseases and Observational and mechanistic studies in Alpha-1 Antitrypsin Deficiency. Attendees will include representatives from academia, NIH, FDA, industry and voluntary health care organizations. Another conference in the planning stages is the meeting entitled, “Economic impact of new therapies in Alpha-1 Antitrypsin Deficiency.” It will take place in the spring of 2018 in Bethesda, Maryland. Topics to be covered include: definitions and global assessment of comparative and cost effectiveness, orphan drugs from the FDA’s perspective, ethical considerations, the patient perspective and other relevant topics. The planning committee will convene later this month to finalize details. The 5th Biennial Alpha-1 Foundation Investigators’ Meeting will take place on September 7, 2018 in Miami, Florida. This meeting is one of the most important meetings organized by the Foundation’s Research Department. Investigators who have been the recipients of Foundation grants during the two years preceding the meeting participate. It is a great way for the Foundation to showcase recently funded research findings and advances in the state of the cure while also affording our investigators a chance to interact, discuss, and present their research to various members of the Alpha-1 community. The Clinical Resource Center (CRC) Forum will take place on September 8, 2018 in Miami, FL. The purpose of this meeting is to provide an opportunity for Alpha-1 CRC physicians to meet and learn about the latest research and resources for the Alpha-1 community. 104 | P a g e
Grants and Awards Program Finding a cure for Alpha-1 is the ultimate goal of the Foundation. Currently, augmentation therapy is available for lung disease, but additional interventions are sought after, either as replacement of or in addition to intravenous alpha-1 antitrypsin. On the other hand, there is no specific treatment for liver disease short of organ transplantation. Therefore, there is a clear need for new therapeutic solutions. Early on, the Foundation leadership recognized the critical role played by biomedical research in the search for novel therapies. By directing significant resources to a growing research program, the Foundation has established itself as the worldwide leader of Alpha-1 research support. The Alpha-1 Foundation has invested nearly $65 million to support Alpha-1 Antitrypsin Deficiency research and programs at 106 institutions in North America, Europe, the Middle East, and Australia. Visionary donors, like you, are making it possible for the Foundation and its partners to leap forward in research and the treatment of Alpha-1. The Foundation continues to work collaboratively with biotech and pharmaceutical industries as well as government regulators to promote the fastest possible development and regulatory approval of new therapies. Foundation-sponsored research has had a significant impact on our understanding of the mechanisms underlying the clinical manifestations of Alpha-1, and has identified novel drug targets likely to lead to new therapeutic solutions. The Foundation is now in a position to promote more translational research. Future research dollars will be increasingly directed towards treatment-related research through the Alpha-1 Foundation’s and The Alpha-1 Project’s (TAP) grant programs involving academic institutions and biotech/pharmaceutical companies. This would not be possible without the many academic investigators whose discoveries have brought the field to this critical juncture. Thus, our peer-reviewed research program has created a solid knowledge base for translational research projects that have the promise to positively impact the health of Alphas and steer innovative research out of the lab and into practice faster than ever. The high quality of medical care that many Alphas enjoy today is built upon years of effort by physicians, scientists, and other medical professionals who work relentlessly investigating the causes of and potential treatments for Alpha-1. It is this tireless effort of the countless medical professionals that has made many once life-threatening diseases and conditions a faded memory and will make Alpha-1 a disease of the past.
Accomplishments While all grant proposals are peer-reviewed by experts for scientific merit, the diverse nature of the applications received makes it difficult to provide a fair qualitative assessment of the research by a single review group. Therefore, the program has been divided into an National Institutes of Health (NIH) style review process with a Grants Advisory Committee (in-cycle grants) and an out-of-cycle grant funding mechanism that are reviewed by selected experts appropriate for the topic of the grant. Smaller grants with a fixed budget are routed to the in-cycle program; most of them fall into the basic research category and can fairly compete with each other for scientific merit. Larger proposals, or projects, are assigned to the out-of-cycle program; typically these are translational research studies requiring funding at a higher level than the in-cycle grants.
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In-Cycle Grants The Foundation’s in-cycle grant opportunities are available in several different categories, each having a different maximum funding level and period of support. The categories are: Pilot and Feasibility grants ($40,000/year – 1 year commitment), Postdoctoral Research Fellowship grants ($50,000/year – 2 year commitment), and Research grants ($100,000/year – 2 year commitment). All 3 of the aforementioned grant categories and funding levels are also available as Ethical, Legal, and Social Issues (ELSI) applications. Out-of-Cycle Grants The Foundation created the out-of-cycle grants program to support large grants that do not fit into the fixed funding levels, start date and/or periods of support offered by our in-cycle grant categories. This program promotes research that could eventually result in the improved health of individuals with Alpha-1 Antitrypsin Deficiency. Out-of-cycle grants can be Foundation-initiated requests for application (RFA) or Investigator-initiated applications. The following out-of-cycle grants are currently active: •
Jeffrey Teckman, Saint Louis University “Alpha-1 Antitrypsin Adult Clinical and Genetic Linkage Study” $1.4 Million over 5 years •
Charlie Strange, Medical University of South Carolina “Alpha-1 Foundation Clinical Resource Center Registry” $581,443 over 2 years
•
Richard Sifers, Baylor College of Medicine “Early onset end-stage liver disease parameters and model generation” $600,000 over 3 years
•
Karina Serban, National Jewish Health “Gordon L. Snider Scholar Award: Endothelial-monocyte interactions modulated by A1AT” $225,000 over 3 years
•
Ani Manichaikul, University of Virginia “Alpha-1 antitrypsin in African Americans and Hispanics” $365,000 over 2 years
•
Christian Mueller, University of Massachusetts Medical School “Ferret Knockout Model for Alpha-1 Antitrypsin Deficiency” $335,626 over 2 years
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Andrew Wilson, Boston University “Open Source CRISPR Gene Correction of PiZZ iPSCs” $100,000 over 1 year 106 | P a g e
The following RFAs are currently active: Gordon L. Snider Scholar Award Originally launched in 2014, this year marks the second offering of the Gordon L. Snider Scholar Award. This award is named after Dr. Gordon L. Snider, one of the most influential researchers in Alpha-1 Antitrypsin Deficiency (AATD). Dr. Snider not only made seminal scientific contributions which have clarified the pathogenesis of Alpha-1, but also laid the groundwork for the Foundation’s research program. In particular, he stressed the importance of encouraging young investigators to pursue a career in Alpha-1 research. The objective of this award is to provide additional career development support for outstanding young investigators who have continued to conduct research (basic or clinical) in Alpha-1 related lung or liver disease after completion of their postdoctoral fellowship. It is expected that the award will provide an incentive for a career in Alpha-1 research. Snider, who died on June 8, 2013 at age 91, founded the pulmonary section of the Boston University School of Medicine and was Chief of medical service at the Boston VA Medical Center for 14 years. He served for a decade on the Alpha-1 Foundation’s Board of Directors. He also served as president of the American Thoracic Society (ATS). The Alpha-1 Foundation intends to commit up to $225,000 ($75,000/year) over three (3) years to fund two (2) awards. These awards will be offered on a biennial basis. John W. Walsh Translational Research Award in Alpha-1 Antitrypsin Deficiency The Foundation was proud to announce and launch a new RFA entitled, “The John W. Walsh Translational Research Award in Alpha-1 Antitrypsin Deficiency.” This award is named after John W. Walsh, past President & CEO of the Alpha-1 Foundation, who dedicated his life’s work to finding a cure for Alpha-1 Antitrypsin Deficiency. Walsh and two others, all with Alpha-1 themselves, founded both the Alpha-1 Foundation and AlphaNet in 1995. Walsh’s leadership and passion has shaped the Alpha-1 Foundation into a successful organization and he is responsible for many of the Foundation’s accomplishments over more than two decades. Walsh has served on many voluntary health agencies and governmental advisory committees, often as chair. He was awarded the Food and Drug Administration (FDA) Commissioner’s Special Citation, the agency’s highest recognition, for his “pioneering collaboration in orphan drug development,” and many other honors. Walsh has always referred to himself as an “impatient patient,” and this award, aimed specifically at translating research findings into medical practice, is intended to carry on his commitment and legacy to finding a cure. The Alpha-1 Foundation intends to commit up to a total of $225,000 over three (3) years to fund one (1) grant. This award will be offered on a biennial basis. Matching /Partner Grants As the extent and depth of the Foundation’s grants program continues to grow, our strong relationship with other entities such as the American Thoracic Society (ATS), the American College of Chest Physicians (CHEST) Foundation, the American Association for the Study of Liver Diseases (AASLD), the American Lung Association (ALA), the American Association for Respiratory Care (AARC) and the 107 | P a g e
National Institutes of Health (NIH) plays an important role. The Alpha-1 Foundation co-funds Alpha-1 related grants with all of the listed organizations. The following matching grants are currently active: •
Alpha-1 Foundation/AARC/ARCF: Advanced Degree and Clinical Research Training Grant in Alpha-1 Antitrypsin Deficiency • Award: $30,000 (A1F contributes $15,000) • 2016 Grantee: Justin Hoffman
•
Alpha-1 Foundation/CHEST Foundation Clinical Research Award in COPD and Alpha-1 Antitrypsin Deficiency • Award: $25,000 (A1F contributes $12,500) • 2016 Grantee: Chiara Rigobello, Ph.D. • 2017 Grantee: TBD
•
ATS/Alpha-1 Foundation Research Grant • Award: $80,000 (A1F contributes $60,000) • 2015 Grantee: Monica Goldklang, M.D. • 2017 Grantee: TBD
•
AASLD/Alpha-1 Foundation Liver Research Grant • Award: $225,000 (A1F contributes $150,000) • 2015 Grantee: Yan Wang, Ph.D. • 2017 Grantee: TBD
•
Alpha-1 Foundation matching grant with Alpha One Foundation Ireland • Award: $160,000 (A1F contributes $80,000) • 2015 Grantee: Noel G. McElvaney, MB, BCh, BAO
Recent Accomplishments Last year, the Foundation further emphasized its dedication to funding Alpha-1 research by again increasing first-year funding from $750,000 to $1,000,000. The Foundation received 39 Letters of Intent (LOIs) for its 2016-17 in-cycle grants program, and, for the fourth year in a row, over half of the investigators of the 27 LOIs invited to submit a full application came from foreign institutions. This is a reflection of our continued efforts to expand the announcement of our funding opportunities and improve the accessibility of our grants program to investigators worldwide. Over the years, the basic and translational research supported by the Foundation has identified new therapeutic targets for Alpha-1 lung and liver disease. A recent Foundation-sponsored international research conference on novel treatment paradigms in Alpha-1 Antitrypsin Deficiency brought together scientists from around the world with the intent to review the state-of-the-art findings on this topic. The presentations and subsequent discussions lead to the conclusion that we are getting closer to early clinical studies involving new therapies. There are now promising cell and animal models to assess potential interventions (gene therapy, gene silencing, small molecules etc.) for subsequent use in 108 | P a g e
humans. Extrapulmonary and intrapulmonary gene therapy and gene silencing are getting closer to becoming a reality in human alpha-1 related liver and lung disease. Furthermore, aerosol alpha-1 antitrypsin may become an alternative to intravenous augmentation therapy and there are other interventions such as the use of anti-oxidants for lung disease. The Foundation is committed to excel by supporting the most competitive basic, translational and clinical research that is needed for human trials in collaboration with industry. Since transitioning to a fully-online grant management system (ProposalCENTRAL), the Foundation has received a great amount of positive feedback from both applicants and reviewers. ProposalCENTRAL is a collaborative, 100% web-based system used by more than 50 nonprofit and grant-making organizations. Its online grant management capabilities have allowed the Foundation to interact seamlessly with applicants, reviewers and grantees for a faster, more efficient grants management experience, which has been a welcomed change from the previous, paper-based application and review system. The Foundation just completed its second grants cycle using the new system and looks forward to implementing continued improvements to its application and review processes for future grant cycles.
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Childhood Liver Disease Research and Education Network (ChiLDREN) In 2004, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and Office of Rare Disease Research began funding the Cholestatic Liver Disease Consortium (CLiC) at the Children’s Hospital Colorado (in Denver) under Dr. Ronald Sokol. The CLiC Network was funded to study five rare, pediatric cholestatic liver diseases, including Alpha-1 Antitrypsin Deficiency related liver disease. The CLiC Network sites were selected to include the same 10 clinical sites as the NIDDK-funded Biliary Atresia Research Consortium (BARC). Dr. Jeffrey Teckman, a leading clinician and researcher of Alpha-1, at the time had recently relocated his practice and academic program to Saint Louis University and Cardinal Glennon Children’s Hospital, which were not initially part of the CLiC and BARC Networks. Since 2005, the Alpha-1 Foundation has been providing funding to support this effort. In November of 2007, the CLiC Network opened a study of four rare pediatric cholestatic liver diseases. This study is entitled Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC). Each of the four diseases included in the LOGIC study is covered by its own consent form and is managed with its own set of enrollment criteria, etc. The vast majority of A1AT patients enrolled in this study are in a study group of participants who have evidence of liver disease (this group is called “Group 2”). The study originally set a goal of enrolling 200 A1AT liver disease participants, but has since amended that goal to 400. Currently, the study has enrolled 393 A1AT patients. There are currently six active, enrolling research studies in the ChiLDReN Network (including the LOGIC study), and several new clinical trials in various stages of development. The Network also includes a variety of active committees, including the Working Group that is focused on A1AT deficiency research. This committee advises the Network on developments in A1AT disease that should be addressed by existing studies (such as LOGIC) or by new studies that could utilize data and/or specimens already collected by the Network. The ChiLDReN Network has committed to maintaining the disease-based Working Groups throughout the remainder of this grant cycle and will pursue research activities related to A1AT as recommended by the A1AT Working Group. Dr Teckman is also leading the working group in developing studies of unique serum biomarkers for liver disease and in continued interaction with the leaders of the patient community. With the continued support of the Alpha-1 Foundation, the UC Denver ChiLDReN site plans to renew the subcontract to Dr. Jeff Teckman at St. Louis University and continue his funding through the current five-year grant cycle.
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Alpha-1 Liver Initiative With the increasing life-expectancy of patients with Alpha-1 Antitrypsin Deficiency, partly due to the beneficial effects of augmentation therapy to manage their lung disease, there has been a growing recognition of Alpha-1-related liver disease in these patients. A major obstacle to the study of liver disease in adults has been the lack of useful information collected on the natural course of the condition. The Alpha-1 Foundation therefore has embarked upon a liver initiative with the goal to better understand the clinical implications of liver disease in adult patients with Alpha-1. In 2013, Alpha-1 liver researcher, Dr. Jeffrey Teckman, of St. Louis University, was awarded an outof-cycle research grant entitled, “Adult Alpha-1 Liver Clinical and Genetic Linkage Study.� The goals of this study are 1) to confidentially collect and link verifiable medical, social, and environmental data, biological samples, and genetic material on a large group of adults with Alpha-1; 2) to look for changes in other genes which could be responsible for disease variation; 3) to examine elements of the environmental, social, and family history associated with more severe liver disease; 4) to provide the framework for clinical testing of new therapies for liver disease in Alpha-1; 5) to stimulate future clinical, epidemiological, diagnostic and therapeutic research. There currently are 3 sites involved with the study; these sites are St. Louis University (Drs. Adrian Di Bisceglie and Jeff Teckman), The University of California, San Diego (Dr. David Brenner), and Boston University (Dr. Andrew Wilson). Since the beginning of the study, 97 patients with Alpha-1 liver disease had been consented and 73 had undergone their first liver biopsy, with the ultimate goal of 100 enrolled subjects. This is an extremely important study given the increasing number of liver-affected adult Alphas. It is estimated that up to 50% of adult Alphas have sub-clinical or clinical liver disease. Previous research had primarily focused on children with liver disease. The study continued its recruitment efforts via the Alpha-1 Registry and at the Alpha-1 Foundation Annual Conference in Chicago in June 2017.
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NCATS Fellowship The Alpha-1 Foundation and the Alpha-1 Project (TAP) have partnered with the National Institutes of Health National Center for Advancing Translational Sciences (NCATS) to provide a post-doctoral fellowship in the field of Alpha-1 research. This collaboration leverages the Foundation’s expertise in the disease with the NIH’s vast resources of compound libraries and advanced screening techniques to discover chemical entities that may develop into new therapies. Mike Iannotti, Ph.D. is now in his third year of the TAP/Alpha-1 Fellowship. Accomplishments: •
Developed secretion assay and reporter cell lines for compounds that modulate ATZ secretion.
•
Performed analyses that incorporate redundancy and evaluation using orthogonal methodology.
•
Developed a novel screening paradigm that could significantly impact the physiological relevancy and quality of screening for Alpha-1.
•
Completed trial screenings on smaller (sample) compound libraries.
•
Generated reports and data that will be available to the Alpha-1 research community.
The goal for the remainder of this Fellowship is to screen the large libraries at NIH.
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DNA and Tissue Bank/LTRC The Foundation made a commitment to the University of Florida to help fund the project entitled, “Genotyping for Alpha-1 Antitrypsin Deficiency in the Lung Tissue Research Consortium (LTRC) Database.� The LTRC, a NIH sponsored program, collects and banks lung tissue and blood from patients with lung disease including COPD, who have died or have undergone resectional lung surgery, along with extensive phenotypic data including lung imaging. To date, the Alpha-1 Antitrypsin Genetics Laboratory has tested 1,022 and has found 3 ZZ, 3 SS, 67 MS and 50 MZ. This program is ongoing and the LTRC makes lung tissue and other samples available for interested investigators at no cost.
Alpha-1 Research Community Initiatives Alpha-1 Biomaterial Exchange The Alpha-1 Biomaterial Exchange is an open resource to both academia and industry that works by matching one investigator (in need of biomaterial) with another investigator (supplier of biomaterial). The Foundation plans to provide a platform in which investigators can collaborate by sharing these materials. The website will act as a clearinghouse for these opportunities. The availability of alpha-1 biomaterial is constantly changing. At any point in time, biomaterials may be available in the following categories: Viruses, Viral Vectors, Plasmids, Mice, Cell lines, Patient Samples (lung, liver) and Data Sets. Since its launch in January 2014, the Biomaterials Exchange has received applications from three investigators who are interested in obtaining samples. Currently, there are three investigators who are participating in the exchange as providers of biomaterials.
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