2018Al pha 1F ounda t i on Pr ogr a msRepor t
Table of Contents Community Engagement .............................................................................................. 3 Educational Material .................................................................................................................. 3 E-Education Library ................................................................................................................... 5 Alpha-1 Foundation Website & Communications ...................................................................... 8 ALPHA-1-To-One Magazine.................................................................................................... 12 Building Friends for a Cure ...................................................................................................... 14 Special Events ......................................................................................................................... 17 Public Policy, Advocacy and Access/Reimbursement ............................................................ 19 Alpha-1 Global ......................................................................................................................... 30 Patient Support Network .......................................................................................................... 40 Educational Scholarships ........................................................................................................ 45 Emergency Relief Fund ........................................................................................................... 47 Oxygen Travel Assistance Program ........................................................................................ 47 National Education Series ....................................................................................................... 48 National Education Conference ............................................................................................... 50 Alpha-1 Kids & Young Adults .................................................................................................. 54 National Awareness ................................................................................................................. 57 Genetic Counseling Program .................................................................................................. 62
Detection & Research ................................................................................................. 67 Alpha-1 Research Registry...................................................................................................... 67 Family Testing / Testing Days ................................................................................................. 69 Alpha-1 Coded Testing (ACT) Study ....................................................................................... 71 Healthcare Provider Education ................................................................................................ 72 Clinical Resource Centers ....................................................................................................... 75 Meetings, Conferences and Events......................................................................................... 77 Grants and Awards Program ................................................................................................... 82 Collaboration with the National Institutes of Health (NIH) ....................................................... 86 Alpha-1 Liver Initiative ............................................................................................................. 87 NCATS Fellowship................................................................................................................... 88 DNA and Tissue Bank/LTRC ................................................................................................... 89
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From innovation and new initiatives, to securing impact from medical research, the Alpha-1 Foundation has lived up to its reputation as a leading organization over the past year. Through enriching existing programs, and establishing new initiatives, we have continued to aim high and achieve much for the Alpha-1 community. 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. 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. The Foundation continues to expand its reach throughout the world with a diverse membership of research institutions, biotechnology and pharmaceutical organizations, medical professional organizations and Alphas. Through these strong collaborations, the Foundation continually looks for new ways to serve Alphas and the community. 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. We look forward to making an even greater impact in 2019 as the Foundation continues on our mission to impact powerfully on human health and to bring that breakthrough research directly to patients. 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 Educational Material Information is a vital lifeline to individuals diagnosed with Alpha-1 Antitrypsin Deficiency and our goal is to provide resources to help Alphas and their families lead a more positive and healthy life. Educational brochures and materials provide validated medical information and 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. These materials are widely disseminated by the Foundation upon request through our website, email or over the phone. Materials are also requested at patient and professional meetings; at all awareness and detection activities and via the AlphaNet On-Demand system.
Accomplishments The Foundation provides 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 of brochures for the period between July 1, 2017 and June 30, 2018 reached 65,200, representing a 6.1% increase as compared to the previous fiscal year. Clinics, hospitals, universities and doctors’ offices are the main institutions that request printed information on Alpha-1.
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The top most requested brochures are: • • • •
What is Alpha-1? Healthcare Provider’s Guide Guide for the Recently Diagnosed It’s All in the Family
Approach The Alpha-1 Foundation continues to evaluate the educational needs of the Alpha-1 community and ensure that the most current and valid information is offered. During fiscal year 2018, four brochures were revised by the Foundation’s Educational Material Working Group: • • • •
Genetic Counseling Program Healthcare Providers Guide Alpha–1 Research Registry Guide for the Recently Diagnosed
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The Alpha-1 Foundation did an evaluation of the external landscape of Alpha-1 information and provided the appropriate updates to various organizations for their content. Of key importance was the update of material for the Rare Disease Clinical Research Network at the National Institutes of Health (NIH) Office of Rare Disease at the National Center for Advancing Translational Sciences (NCATS) and the updates provided to the American Thoracic Society (ATS).
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E-Education Library 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. Support Group Leaders also use these videos to educate those that attend meetings who are unable to travel to Education Days or to the National Education Conference. The E-Education library is comprised of over 490 presentations given at Education Days and National Education Conferences and includes the Family Awareness series videos. The library is a valuable resource for the global community as well. After the United States, the countries with the highest play rates on the videos are the United Kingdom, Canada, Australia, the Netherlands and India. Ireland, New Zealand, Spain and Germany round out the top ten countries watching videos in the E-Education library.
Accomplishments Currently, there are 494 videos in the E-Education library. Another 26 presentations were recorded at the 2018 Alpha-1 National Education Conference and were added to the library. This last year the E-Education library saw a total of 19,626 plays, a 6% increase over last year. Keeping in line with the increase in mobile users visiting the Foundation’s website, the E-Education program has also seen an upward trend in mobile devices used to access the presentations: • • •
Desktop plays: 57% Mobile plays: 30% Tablet plays: 13%
The top three E-Education presentations viewed in fiscal year 2018 were: • • •
Could it be Alpha-1? A Diagnosis Story (Awareness Whiteboard Video) What Does it Mean to be an Alpha-1 Carrier? By Charlie Strange, MD Alpha-1 Antitrypsin Deficiency 101: Lung and Liver by Alan Barker, MD and Robert Sandblom, MD
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 and on Alpha-1 Global’s website. The source URL statistics are outlined below: • • • •
Direct link – 73% Alpha1.org – 20% Alpha-1 Global – 2% Facebook.com - 1%
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Approach The E-Education library will continue to expand with the addition of all educational presentations that take place at Education Days and the 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. Presentations added to the library are shared on social media including the Foundation’s Facebook and Instagram. 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 Caregiving o Children and Alpha-1 o Genetics o Getting involved o Liver o Living with Alpha-1 o Lung o Nutrition o Oxygen 6|Page
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Pulmonary rehab and exercise Research Transplantation
To enhance the E-Education program organization, the Foundation added “Caregiving� to the already existing list of presentation topics. Caregiving has been the subject of many presentations at Alpha-1 Education Days and National Conferences and is an important topic for the community.
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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 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 also promoted through our Facebook page and our Twitter account, inviting followers to refer to the webpage for more information on specific subjects. The website is updated daily with information, news, upcoming events and personal stories of those living with Alpha-1. Also, included on the site is information on clinical trials, health tips and other useful information that may help to improve the quality of life of Alphas. 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. 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 The Alpha-1 Foundation website, www.alpha1.org, received 364,338 visits from July 1st, 2017 – June 30th, 2018, a 5% increase from the previous year, with a total of 669,824 pageviews across all sections of the website. The top 5 most visited pages of the Alpha-1 Foundation website: Section What is Alpha-1? Home page – www.alpha1.org Newly Diagnosed/Lung Disease Testing for Alpha-1 Newly Diagnosed/Liver Disease
Number of visits (unique visits) 100,130 59,903 37,326 33,178 26,370
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The use of mobile and handheld devices to view the website continues to rise and is certainly considered as determinations are made on new and innovative ways to reach audiences. From the total number of unique visitors, 42.82% were desktop users, 49.22% accessed via their mobile phones and 7.97% via their tablets. Combined, both mobile and tablet users totaled 57.19% of our audience. Social Media Social media continues to be the #1 driver (other than Google) of visitors to the website. Posting several times a day and posting content that is relevant to our community and easy to understand has been a key factor to engagement. This year we registered 1,167,655 reaches. Our most popular posts include clinical studies, basic information on Alpha-1, testing messages, and other relevant community news. During the 2018 National Education Conference in San Francisco, the Foundation reached a total of 36,458 users with Facebook activity and a total of 15,928 video minutes were viewed on this platform (including Facebook live streams), between June 25th, 2018 – July 7th, 2018. As of June 30, 2018, the Foundation’s social media audiences are: • • •
Facebook: 11,047 Twitter: 2,353 Instagram: 1,288
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
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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
Approach The Foundation continues 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 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 maintains a strategy around optimizing reach to new or underserved target audiences. In the 2019 fiscal year, a concerted effort will be made to close gaps in that reach. The E-Communication plan includes: •
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Utilizing electronic platforms that will increase our reach. This strategy will allow for new and continuing engagement opportunities within our community and 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. 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; such as access to care and insurance reimbursement.
Podcast The ALPHA-1-To-One Podcast expands the Foundation’s existing media platform to a new audio medium that interests 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 is building 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.
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Photojournalism An “Alpha-1 Gallery� is being built as part of a larger photojournalism project at the Alpha-1 Foundation. We hope to launch initial content at the end of fiscal year 2019 and 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. 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.
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: •
Vol. 16, No. 1 (Spring 2018). On the cover we featured Jonathan Maidment, a 23-year old Alpha who began a hike of the entire 2,600-mile Pacific Crest Trail (PCT), from Southern California to Canada, as a fundraising effort for Alpha-1 research.
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Vol 15, No. 3 (Winter 2017). This issue of Alpha-1-To-One featured Gerard M. Turino, MD. Known as a “tireless master clinician,” Turino paved the way for thousands of pulmonologists. From published papers in medical journals to many scientific achievements, he continues his career and will leave a legacy with his latest scientific venture.
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Vol 15, No. 2 (Fall 2017). Cover Story: John W. Walsh, co-founder of the Alpha-1 Foundation, who passed away March 2017. He forged a patient-centered movement that not only changed the Alpha-1 landscape, but also the way patients are seen and respected in the healthcare sector.
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Popular features in every issue include updates on support groups and Alpha-1 Kids, an AlphaNet coordinator’s story and an extended, detailed calendar of events. Also popular is the section on Ask the Alpha Doc, with advice from an Alpha-1 specialist. Each Clinical Resource Center receives a bundle shipment of magazines for patients in their practice.
Approach This year’s three full-color issues will include: •
Interviews with researchers
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An explanation of the research grant review process and the criteria used to determine meritorious applications
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A listing of our 2018 in-cycle research grant awardees and funded projects
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Clinical Resource Center physicians and other specialists as frequent contributors providing the answers to the regular Q&A feature “Ask the Alpha Doc”
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An overview of the 27th Annual National Education Conference in San Francisco, and the plans for the 2019 conference in Orlando, Florida
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News regarding clinical trials and other findings on treatments and drugs
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An updated listing of “Alpha-1 studies now enrolling” providing research opportunities that community members may want to take part in
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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 The Building Friends for a Cure (BFC) program is a critical component of the Foundation’s goal of raising awareness of Alpha-1 while providing tools to the community to raise funds to support research and related programs. 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 four successful events and the launch of a new online fundraising platform:
Escape to the Cape 2017 – this event gave us the opportunity to honor the co-founder of the Alpha-1 Foundation, John W Walsh. We had our largest bike trek ever with 175 riders and volunteers helping raise over $250,000.
Celtic Connection – the largest gathering of Alpha-1 friends and family (outside of the Annual National Education Conference) come together for a St. Patrick’s Day gala. Over 400 attendees from the Alpha-1 community, industry partners, and medical affiliates gather each year to celebrate Celtic heritage in Boston, MA. The highlight of this event is the passing on of the famous “shillelagh award,” which is awarded to a prominent Alpha-1 researcher.
November Alpha-1 Awareness Month- This year marks the 3rd annual “Alpha-1 Virtual Walk” promoting awareness of Alpha-1 throughout the month of November. This is not just about fundraising but also gives us the ability to rally our community in all 50 states. These walks allow individuals to get together to learn about Alpha-1 and take action into their own hands. Over 681 donors and participants raised over $110,000 this year.
We finished out our year with the unfortunate end of “Jonathan Maidment’s Hiking for A Cure,” but his attendance at the National Education Conference in San Francisco gave us the opportunity to highlight his successes, engage his family and bring the community together to help surpass his goal by raising over $80,000. 14 | P a g e
We are proud to announce the launch of our new online fundraising platform that helps encourage participants to raise more money, extend their reach, and manage fundraising activities. Our peer-to-peer and event fundraising software gives our Building Friends For A Cure event participants the tools they need to be successful, social fundraisers. It provides email, social media, and mobile tools that allow our participants to reach their personal networks. This upgrade lets participants communicate more effectively with potential donors by tracking and analyzing their online, offline, social, and mobile activity.
Golf events, “Get the Scoop” ice cream socials and walks continue to thrive and encourage the Alpha-1 community to stay involved. Building on the past two year’s success, the Foundation plans to conduct another “Virtual Walk” during Alpha-1 Awareness Month, November 2018, encouraging our community to get involved no matter where they are. The Virtual Walk was already launched at National Conference and continues to gain momentum. Building Friends for a Cure activities allowed for a record of over 4,400 individuals to participate in events and fundraise for the Foundation.
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 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. We use social media and our Building Friends for a Cure Facebook page which has grown to over 1,500 members. This platform allows the community to highlight their fundraising successes and encourage friends and family to engage in their activities. 15 | P a g e
Demographics and giving habits are shifting and the Foundation is dedicated to meet these needs. Through social media analytics, reporting, and recommendations, the Foundation delivers measurable impact to the community. This year the focus will be to engage two groups that play a pivotal role in our community: AlphaNet Coordinators and Clinical Resource Centers. A comprehensive overview of the BFC program will be presented to the AlphaNet Coordinators as they play a vital role in sharing information with the Alpha-1 community and will encourage them to get involved. The Foundation’s BFC program also promotes community engagement and targets areas around Clinical Resource Centers (CRCs) to connect the medical community with the Alpha-1 patient 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. Another focus will be on building a stronger community on the west coast of the United States. The “Hiking for a Cure” project energized individuals and created momentum. This year the Foundation plans to reengage with Alpha-1 friends at Breathless Wines located in California. The company is a family affair, built by the love of three sisters, and the passion for life that their mother, who was an Alpha, passed down to them. The sisters are dedicated to creating awareness and will provide us with opportunities to raise funds for a cure. Events on the calendar for this year include: o o o o o o o o o o o o
Celtic Connection (Boston, MA) Dance For A Cure (Jacksonville, FL) George Washington Bridge Walk (NY/NJ) Hero Walk (Henrico, VA) Step Forward for Alpha-1 & Ice-Cream Social (Iowa) Bettina Irvine Memorial Event Alpha-1 Walk and Ice-Cream Social (Denver, CO) 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 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 2018 Celebration of Life Annual Golf Classic and Dinner Reception was held at Indian Creek Country Club on Miami Beach, Florida on Monday, April 30th. The “Havana Nights” themed dinner reception honored Jim Quill, on his retirement after 10 years as general manager for AlphaNet. The Foundation and AlphaNet thanked Mr. Quill for his outstanding leadership and commitment to the mission of the Alpha-1 Foundation. The Foundation also honored Beth Labasky for 17 years of outstanding commitment and dedication to the State of Florida Alpha-1 Screening and Detection Program, through which over 25,000 Floridians have been tested for Alpha-1. Ms. Labasky helped secure funding through the State of Florida government. The Alpha-1 Foundation also hosted its Grant Awardees reception during the annual American Thoracic Society’s (ATS) international conference in San Diego, California. Over 150 guests, including Alphas, physicians, researchers and industry partners joined at The Prado in Balboa Park 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. At this event the Foundation also highlighted Joseph Kaserman, MD, the inaugural John W. Walsh Translational Research Award grantee. Dr. Kaserman is an instructor of medicine at Boston University School of Medicine and a physician in Pulmonary, Allergy, Sleep and Critical Care Medicine at Boston Medical Center.
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Approach The 2019 annual signature event Celebration of Life will be hosted at Indian Creek Country Club on Miami Beach on Monday, April 29th, 2019. The event will include the Annual Golf Classic and a themed fundraiser dinner. The Foundation will also be hosting additional fundraising events in 2019. This fundraising cultivation model allows the Foundation to share information on Alpha-1 awareness while raising dollars. The goal is to gather 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 in Dallas in May 2019. 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 focused on 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 ranging from diagnosis, treatment, research, cost of care, access to specialists, reimbursement, and access to therapy. We inform policymakers, the public, and the media about the impact of government programs, the costs and benefits of various new approaches 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. The Foundation engages on behalf of Alphas to protect access to adequate insurance coverage and maintain the patient protections implemented by the Affordable Care Act (ACA). The Foundation continues to advocate on its longstanding policy priorities; 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. The Foundation champions the rights of Alphas and their families by shining a spotlight on rare disease and escalating the urgency of our cause; advocating for strong, continued investment in healthcare, urging members of Congress to prioritize the needs of Alphas and those affected by rare and chronic disease. This includes eliminating barriers to healthcare coverage, ensuring access to essential medications and therapies, raising awareness of patient needs and improving patient detection and outcomes. The Foundation’s participation in the Alpha-1 Patient-Focused Drug Development meeting with the Food and Drug Administration (FDA) on September 2015 resulted in the Alpha-1 community survey that accompanies that effort. The summary submissions continue to be referenced by the FDA. The Access and Reimbursement Program is a central resource for information on access to care and reimbursement for Alphas who require assistance. The access and reimbursement telephone line is often the first signal that there are access problems in our community. Several resources have been identified, indexed, and referenced, in response to such threats and continue to be developed as the landscape in access and reimbursement changes. The access program includes a Private Health Insurance Toolkit that educates and aids patients and their families in the selection of private insurance. 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 program material contains sections about patient assistance programs, reimbursement in government programs, managed care basics, billing, coding, prior authorizations, appeals grievances and more.
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Accomplishments Accomplishments in public policy and advocacy 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 funding for scientific research and drug development by the federal government and other sources. National Institutes of Health (NIH) •
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The Foundation holds 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). o The position brought opportunities for alpha-1 clinicians and investigators to present current research in alpha-1, as a model for other rare diseases pursuing gene and cell therapies Representing the Alpha-1 Foundation on the Rare Lung Disease Consortium of the Rare Diseases Clinical Research Network, an initiative of ORDR, NCATS Successfully launching an Alpha-1 Working session at the 2018 Rare Lung Disease Consortia meeting Presenting at the Rare Disease Clinical Research Network (RDCRN) Directors meeting – Rare Disease Trial Innovation Submitting appropriations comments to maintain or increase NIH funding Providing comments in response to NIH RFI on Clinical Research Across the Lifespan Illustrating Foundation and NCATS collaboration in a presentation at NCATs inaugural Patients as Partners meeting
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, Alpha1 was omitted from the document entirely. The Foundation rallied the community and the call to action led to the importance of including Alpha-1 in the plan.
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Some actions that took place regarding the COPD National Action Plan include: • • •
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Providing recommendations for Alpha-1 related content in the plan at face-to-face meetings with NHLBI Participation at three congressional briefings on plan implementation and impact in rural health Development of COPD National Action plan images that tie Alpha-1 into the plan and engage the Alpha-1 community, for awareness, therapeutic development and detection of Alpha-1 in COPD Collaboration the American Lung Association, American Thoracic Society, American Association for Respiratory Care, US COPD Coalition and the COPD Foundation.
Food and Drug Administration (FDA) • •
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Meeting with the Center for Biologics Evaluation and Research and Center for Drug Evaluation and Research to discuss clinical trial design Submitting letter to FDA requesting they consider a broader range of endpoints, including radiologic endpoints, for Alpha-1 and COPD treatments. Stating that CT densitometry can be an appropriate primary outcome and request that the FDA support use of these and other endpoints. • Providing comments on the Draft Guidance for Industry regarding Pediatric Rare Diseases—A Collaborative Approach for Drug Development Using Gaucher Disease as a Model and urging research and drug development for pediatric liver disease in alpha-1 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 Securing an invitation to serve on the newly formed Patient Engagement Collaborative for a term of two years
Access Issues: Department of Health and Human Services (DHHS) •
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Submitted formal comment on the Conditions for Coverage for End-Stage Renal Disease Facilities- Third Party Payment. Requested that the Centers for Medicare and Medicaid Services (CMS) amend its existing policy to stop insurance companies from refusing thirdparty premium assistance from certain entities. Respond to Request for Information: Reducing Regulatory Burden Imposed by the Patient Protection and Affordable Care Act (ACA) and Improving Healthcare Choices to Empower Patients 21 | P a g e
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Work with coalitions and industry partners with the goal of passing home infusion legislation Responding to HHS Notice of Benefit and Payment Parameters for 2019 Submitted comments on the Short-Term, Limited-Duration Insurance Plan Proposed Rule. Conducted a survey on the cost of care in the Alpha-1 community allowing us to provide a data-based response to HHS Blueprint to Lower Drug Prices and Reduce Out-of-Pocket Costs (submitted in July, 2018). Sample Statistics from the Survey: o o o o o o o o o o o o
Launched on June 4, 2018 397 respondents completed the survey Responses from 45 states Greater than 90% of the respondents were over 40 years old 79% were adults with lung disease 13% were asymptomatic 71% use augmentation therapy; 41% used supplemental oxygen 49% had private insurance; 44% utilized public plans 47% of public plan users had a Part B plan; 2% had a Part C plan Approximately 50% of respondents paid over $100/month on prescription drugs; 4% spend over $2500 monthly 39% reported barriers to accessing their prescription drugs Barriers were associated with (high to low frequency): plan would not cover preferred therapy and/or made patient switch coverage/product, high coinsurance/copays, lengthy recertification process, step therapy/fail first, no coverage for home infusion, had to switch specialty pharmacy, lack of appeal process
Affordable Care Act (ACA) •
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The Foundation worked closely with our public policy and collaborative partners to ensure complete understanding and timely response in the ever-moving healthcare repeal, replace, revise activities We closely analyzed each proposal to understand how it would affect Alphas, and responded with statements, grassroots advocacy materials, etc. Drafted and disseminated 3 statements/letters from March – September 2017 o ACA letter from A1F o A1F letter on American Healthcare Act (AHCA) of 2017 o A1F letter on Graham-Cassidy Senate Amendment 1030 to AHCA Provided thoughtful response to the Affordable Care Act request for information from the Administration
Centers for Medicare and Medicaid Services (CMS) •
Participate on a working group to evaluate the impact of supplemental home oxygen due to competitive bidding 22 | P a g e
o Survey completed and analysis of over 2000 respondents’ answers published in the Annals of ATS: Patient Perceptions of the Adequacy of Supplemental Oxygen
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Therapy: Results of the American Thoracic Society Nursing Assembly Oxygen Working Group Survey o Expert meeting convened to assess issues and provide potential solutions/next steps. Proceeds to be published o New special interest group formed to continue data collection and implement solutions related to patient and provider education, innovation in technology, policy and to produce clinical and treatment guideline for supplemental oxygen use. Working to educate the payer community about the harm of restrictive formularies Providing specific comments on: o Network adequacy o Out-of-pocket cost sharing o Discrimination prevention o Improvement of consumer assistance tool
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
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 Participating on the Governing Board of COPD Patient-Powered Research Network (PPRN) ATS Public Advisory Roundtable (PAR) Continuing partnership with the American Association for Respiratory Care (AARC) to ensure patient access to pulmonary rehabilitation Forging a strategic relationship with American Association for the Study of Liver Diseases 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 on healthcare and innovation policy Participating in the Plasma Protein Therapeutics Association (PPTA) Annual Fly-In on Capitol Hill Provided feedback to PPTA on Patient Notification System Data and recommendations.
Patient Engagement/Grassroots Advocacy • •
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 grassroots efforts 23 | P a g e
• • •
• • •
Launching the online grassroots advocacy platform for streamlined community participation in policy Conducting webinars and teleconferences to educate our constituency about Medicare Open Enrollment and Marketplace Open Enrollment Access and Reimbursement info line for trends in healthcare needs: o Counselled over 147 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 o Calls related to denials and appeals increased over last year Maintaining catalogue 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 Utilizing an Action Center on Alpha1.org to facilitate grassroots community participation in calls to action for local, state and federal legislation relevant to Alpha-1.
Grassroots Advocacy experienced a considerable year with the implementation of the new Action Center in September 2017, and the hiring of a new Grassroots Advocacy Manager. 2017 also saw a reinvigoration of the Advocacy Ambassador Program. Overall It was a year marked by change, challenges, and considerable success. Early in the year, a series of rapidly proposed changes to the Affordable Care Act (ACA) that would negatively impact Alphas were proposed. Through the use of the Action Center, the Foundation launched calls to action (listed in table 1 below) and was able to send a total of 1,273 messages (combined) to the President, Vice-President, Senate, and House of Representatives, from Alphas residing in 42 states. Our Grassroots efforts were successful in getting Representative Chris Stewart to Co-Chair the Congressional COPD Caucus, and contributed to the successful preservation of the Orphan Drug ACT and preserving the patient protections under the ACA. Table 1 Campaign
Date
Summary
Bipartisan work
12-Sep-17
House & Senate; effort to maintain essential healthcare protections
The time is NOW-Protect our access
19-Sep-17
House & Senate; effort to maintain essential healthcare protections
Alexander Murray Bill
20-Oct-17
Senate; effort to lower costs & ensure coverage in the individual market
Tax Cuts and Job Actions Act
13-Nov-17 Senate; effort to protect Orphan Drug Tax Credit, Medical Expense Deductions and Individual Mandate of ACA
Tax Reform
2-Dec-17
House; effort to protect Orphan Drug Tax Credit, and Individual Mandate of ACA
Co-Chair the COPD Caucus (Utah 2nd District)
8-Feb-18
Utah 2nd Congressional District; Request to Co-Chair the Congressional COPD Caucus
FY 2018 Appropriations
13-Mar-18 All; ensure continued and adequate funding for National Institutes of Health (NIH)
Another success during the year was in the ability to quickly and consistently attract new users to the Action Center. Fortunately, the Foundation was able to quickly ramp up and continue to grow the number of registered users to the Action Center; quarter after quarter. It took the combined efforts of Social Media 24 | P a g e
Campaigns, Support Group Leader Outreach, Ambassador Campaigns, and Face-to-Face interactions at various events to grow registered users. The pace at which new users were attracted worked well and plans are in place to continue to increase the numbers in the coming year using the same level of commitment and resources. Another exciting development in Grassroots Advocacy was the recruitment of Advocacy Ambassadors who agreed to commit to serving in the role for 2 years. The Foundation established a well-defined role for the Ambassadors to operate within and to assist us in the search for and recruitment of, new Ambassadors. A comprehensive training plan was developed (see table 2 below) and aimed to prepare the Ambassadors to assist the Foundation with its advocacy agenda. All of the Ambassadors were able to complete the required training within 30 days and are now well prepared to go forward and project the Alpha Community Voice in 16 states, and Washington D.C.
Table 2
Required Topic Required Topic Required Topic Required Topic Required Topic Recommended Recommended Recommended Recommended
Ambassador Training Topic Meeting with elected officials Legislative Testimony Share your Story for Advocacy Federal Legislative Process Public Speaking Presentations Answering and Receiving Calls Effective Letter Writing to Elected Officials Writing a Letter to the Editor Calling in to Talk Shows 25 | P a g e
The Ambassadors will also be tasked with performing the following actions which will serve the entire community and take the Grassroots Advocacy Program to another level: • • • • • • • • • • • • •
Educate Support Groups on legislative issues Letter writing campaigns to legislators and elected officials Letters to the Editor Calling in to Talk Shows Meet with elected officials face-to-face Plan Events Encourage new membership Answer emails from the community Make and receive phone calls Help organize activities to raise awareness in their community Use Social Media to raise awareness and garner support (turn purple) Provide Legislative testimony Participate in walks for a cure
Approach The Alpha-1 Foundation contracted with Cavarocchi, Ruscio, Dennis (CRD) Associates in Washington, DC, in FY 2018. Last year we launched a grassroots advocacy platform called Voters’ Voice. We will capitalize on the structure of our support network to solicit Alpha-1 Advocacy Ambassadors to help drive local, state, and federal legislation. The Foundation remains committed to battling the current structure of competitive bidding and the resulting profound loss of choice for in-home and ambulatory oxygen provisions. The Alpha-1 Foundation will continue our work in the Supplemental Oxygen Working Group and the Special Interest Group with the American Thoracic Society, the COPD Foundation and the organizations of the Rare Lung Disease Consortium to drive a concerted effort for oxygen access. The following Public Policy Priority agenda drives our activities: Research Issues: The Alpha-1 Foundation’s priority is to support all efforts that advance the science towards a cure. Basic and translational research into new therapies to cure Alpha-1 or improve the quality of life of those who are affected. The Foundation will work with regulators and sponsors to ensure that they engage with patients and the Alpha community when developing clinical trials and other policies. The Foundation strongly supports 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 funding for NIH to advance scientific progress into research related to Alpha-1.
•
The Foundation supports working with National Institutes of Health including NHLBI, NIDDK, NCATS, NHGRI, as well as trans-NIH initiatives including the Precision Medicine Initiative.
•
The Foundation engages with the NHLBI’s National COPD Action Plan in efforts to ensure the plan benefits individuals with Alpha-1-related COPD and fosters diagnosis and future research
•
The Foundation will support efforts to streamline the clinical research process and to increase patient engagement in trial transformation.
Food and Drug Administration •
The Foundation will continue to work with the FDA to ensure that it continues to engage with and is responsive to the needs of the Alpha community.
•
The Foundation will continue to work closely with the FDA and sponsors to implement creative and adaptive clinical trial designs, strategies for improved clinical trial endpoints, and the inclusion of children in appropriate drug studies for liver treatments.
•
The Foundation will continue to advocate for policies to ensure the safest possible blood supply, including the continued implementation of the Transfusion-Transmissible Infections Monitoring System (TTIMS) and ensuring a consumers’ voice in the Plasma Protein Therapeutics Association’s Patient Notification System, to protect the end users of blood and blood products.
Access Issues: The Foundation advocates for policies to ensure that Alphas have access to the specialists, treatments and therapies needed for them to manage their condition and lead healthy, productive lives. All Alphas should have access to the care they need – including oxygen, biologic therapies, transplants, and supportive services – regardless of their type of insurance, private or public. Department of Health and Human Services •
The Foundation will continue to ensure that the insurance products available meet the needs of Alphas, providing appropriate coverage and reimbursement for therapies, regardless of future legislative efforts to repeal and replace or substantially change the Affordable Care Act (ACA). We continue to support the array of private insurance market reforms that were included in the ACA as these work together to ensure that Alphas, and all individuals with rare, expensive and chronic conditions have adequate insurance coverage.
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•
The Foundation will continue to engage with stakeholders to ensure access to third-party patient assistance programs.
•
The Foundation will support policies that ensure the continued implementation of the Genetic Information Nondiscrimination Act (GINA) and will oppose policies that would undermine GINA’s protections.
•
The Foundation will continue to support and monitor meetings of the Health and Human Services Advisory Committee on Blood Safety and Availability.
Health Resources and Services Administration •
The Foundation will 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.
•
The Foundation 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 •
The Foundation will advocate to ensure that Alphas who are covered by either Medicare or Medicaid have the same access to treatments and receive the same standard of care as those who are privately insured.
•
Alphas require access to supplemental oxygen, and the Foundation will work with CMS to ensure the appropriate coverage and reimbursement of this required therapy.
•
The Foundation will work to improve patient access to infusion therapies at home.
Department of Homeland Security/Department of Transportation •
The Foundation will continue to engage with the agencies of jurisdiction to address restrictive regulations regarding supplemental oxygen to travel.
Department of Veterans’ Affairs •
Many Alphas receive their health care through the VA, and the Foundation will ensure that they have access to necessary care.
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Social Security Administration •
The Foundation will explore having Alpha-1 added to the Compassionate Allowances initiative, which would enable Alphas to more quickly qualify for disability and receive Medicare coverage.
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 2019 NIH Funding - Advocate for special increase to NIH/NHLBI Strengthening of the CDC COPD Program and educational component on Alpha-1 Increased targeted detection of Alpha-1 in the COPD population
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Alpha-1 Global Alpha-1 patients worldwide experience many of the same problems as those in the United States; however, unlike the United States they have limited or no access to augmentation therapy. Fostering relationships across international patient, clinician and scientific communities will progress the areas of awareness, earlier diagnosis, disease management, the role of patient registries and ultimately access to augmentation therapy.
Strategic Objectives & Actions 1. Facilitate 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 2. Raise Alpha-1 awareness globally o Support awareness campaigns on a global, national and regional level o Compile and report information about each country’s Alpha-1 community o Increase awareness through a diversified communication strategy 3. 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 4. 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 Global Community and Physician & Researcher eNews The Foundation continues to facilitate streamlined communication between patient groups, physicians and researchers in an effort to better serve the global Alpha-1 community. The Global Community eNews and Physicians & Researcher eNews are bi-monthly publications made available through Social Media and distributed by other Alpha-1 organization as well.
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Alpha-1 Global Website The website serves as a hub of information and communication. It is important to remain sensitive to the fact that some visitors speak limited or no English. To show intentionality in establishing international relations, static pages on the website are translated into 5 primary languages: English, French, German, Portuguese and Spanish.
Alpha-1 Advocacy Pathway Alpha-1 Global has developed an interactive platform which will assist individuals through the process of understanding advocacy and provide the tools needed to become a dedicated Alpha-1 Advocate. The Alpha-1 Advocacy Pathway is available on the Alpha-1 Global website and offers engaging training modules for five avenues of advocacy involvement: • • • • •
Self Advocate Social Media Advocate Community Advocate Policy/Legislative Advocate Patient Organization Leader/Advocate 31 | P a g e
The Alpha-1 Advocacy Pathway was introduced through a Social Media campaign where Alpha-1 Leaders from 10 countries were introduced as local advocates in their country (see the Swiss example). The pathway continues to be updated with links to newly developed materials that are offered as resources for patient advocacy. Included in the program is a start-up manual for new Alpha-1 Support Group leaders. The document outlines a plan containing best practices and resources related to Alpha1, assisting aspiring patients to become effective support group leaders.
REGIONAL UPDATE: Europe Alpha-1 EU Policy Recommendations Alpha-1 Global contracted Rohde Public Policy Group (RPP) in Brussels in 2016-2017 to work with an Expert Group of patients, researchers and physicians to update the Policy Recommendations on Alpha-1. The new document entitled “Time To Get Better� was created to have a current and comprehensive tool for advocacy on an EU and national level. The Policy Recommendations were officially launched in the European Parliament on March 22, 2017. In the winter of 2017-2018, Alpha-1 Global coordinated the translation of nine out of eleven languages by local patient groups. Ten languages are currently available online. Printed copies were distributed in the following eight languages: Danish, Dutch, French, German, Italian, Romanian, Spanish, and Swedish.
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Training Webinar and Checklist In January 2018, RPP conducted a training webinar in preparation for the distribution of the Policy Recommendations. The user’s guide (5 Steps to Boost Alpha-1 Awareness in Your Country) was created as a working document to assist Alpha-1 leaders to outline the most effective advocacy goals and distribution plan for the Expert Recommendations document for their country, and provided suggestions for policy maker engagement and Alpha-1 awareness among healthcare providers. Leaders exchanged stories and ideas about the use of the document in their countries during Awareness Day events, and a survey taken over the summer will allow us to analyze what has been done in each country so far and determine the next steps of ongoing advocacy on a national level.
EU ALPHA-1 AWARENESS DAY: European Health Made National EU Parliament Meeting – Brussels, Belgium April 25th marked the first European Alpha-1 Awareness Day dedicated to providing further understanding of the condition. To kick off the Awareness Day, a special meeting at the European Parliament took place, hosted by MEP Marek Plura from Poland. Alpha-1 leaders from ten countries attended the meeting. Seven of them presented the challenges faced of access to care and treatment in their country. A full meeting report is available on the Alpha-1 Global website. A social media campaign surrounding the Alpha-1 Awareness Day proved successful with 436 followers on Twitter; 29,500 Tweet Impressions and 815 Profile visits. Throughout the course of the campaign, Alpha-1 Global’s Facebook alone registered 13,858 reaches.
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Social Media Campaign Facebook Banners were created in seven languages, outlining specific awareness messages for use in national Social Media efforts in the following countries: Belgium, Denmark, France, Italy, Netherlands, Poland, Spain, and Sweden.
Additionally, 6 Members of the European Parliament volunteered to create an awareness video in their own language: Finland, Netherlands, Poland, Spain, Italy and the UK. They committed to improving the situation of Alpha-1 Antitrypsin Deficiency in their respective countries, aiming to grow support, awareness and collaboration among national policy makers.
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Roundtable on Alpha-1 Antitrypsin Deficiency On April 25th, an EU Roundtable discussion in Brussels was organized to facilitate dialogue between specialists and patient representatives on how to share best practices in the diagnosis and care of Alpha1 Antitrypsin Deficiency and encourage collaboration between patients and caregivers at an EU and national level. Presentations on Alpha-1 Antitrypsin Deficiency, the use of the Expert Recommendations, and European Reference Networks (ERNs) including ERN-LUNG and ERN-rare LIVER were given. Discussions took place regarding suggestions for increased awareness and education among physicians, and how to most effectively integrate Alpha-1 into the ERN-LUNG and ERN-rare LIVER structures. A full meeting report can be found on the Alpha-1 Global website.
European Reference Networks for Rare and Complex Diseases European Reference Networks (ERNs) are virtual networks involving healthcare providers across Europe. The network aims to tackle complex or rare diseases and conditions that require highly specialized treatment and a concentration of knowledge and resources. Alpha-1 Global is taking an active role in ERN-LUNG through representation by informed patient leadership. The aim is to create an efficient communication structure to ensure that the voice of all EU Alpha-1 leaders is heard. A close working relationship with the patient representatives’ coordinator of ERN-rare LIVER has also been established, in preparation for more streamlined activities to take place in 2019. European Alpha-1 Research Collaboration Alpha-1 Global will be represented on the Steering Committee of this newly established European Alpha1 Research Collaboration (EARCO), to provide patient focused input into research and clinical priorities. EARCO will work closely with ERN-LUNG to avoid duplication between the two projects. Our patient representative will be involved in developing a strategic plan over the summer of 2018. One of the activities will be to develop a survey for patients and clinicians to determine research priorities. The first Steering Committee meeting took place on July 3-4, 2018 in Barcelona, Spain, and a follow up meeting is scheduled to take place during the ERS Congress in Paris, France, in September.
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REGIONAL UPDATE: Latin America Per the request of Alpha-1 leaders in Latin America, a designated Latin American Facebook group page was established by Alpha-1 Global. All Spanish speaking individuals in our network have been invited to join and participate. The site has proven to be very informative and is actively used. Alpha-1 Global also lend its services to redesign the Argentinian website to be a more comprehensive site with relevant information, resources and links to any available Alpha-1 related materials in Spanish. The new website was put in place prior to the ALAT Congress in Mexico City on June 26-30, 2018. Integrated efforts and coordination between physicians and LATAM patient representatives took place in preparation for the ALAT (Latin American Thoracic Society) Congress. Dr. Michael Campos conducted a session on Alpha-1 and a special Alpha-1 symposium was organized by ALAT-NEUMOSUR, in which several Alpha-1 Key Opinion Leaders in our network participated. Alpha-1 Global translated the Alpha-1 Physicians Pocket Guide (published by the Alpha-1 Foundation) into Spanish, to be distributed to physicians during the Congress. Dr. Alejandra Rey, M.D., a pulmonologist from Montevideo, Uruguay, is spearheading a working group of ALAT 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. The Alpha-1 Foundation is sponsoring the project which is scheduled to be finalized later this year.
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REGIONAL UPDATE: Australia Due to the reimbursement process that is underway in Australia, 2018 is a crucial year for Alpha-1 Association of Australia (AAA). The association was represented during the TSANZ (Thoracic Society of Australia and New Zealand) Lung Conference on March 23-27 in Adelaide and is currently participating in a TSANZ Alpha-1 working group to assist with the development of a policy paper. The Alpha-1 Foundation assisted in the association's appeal to 18 Minsters of Health and the Chief Executive of the National Blood Authority, by providing a letter of support and a copy of the Alpha-1 Poster by Dr. Sandhaus. A decision on government funding of augmentation therapy is expected from the National Blood Authority before the end of 2018. Additionally, two online patient webinars (January and March) were featured with a leading Alpha-1 physician, Dr. Jonathan Burdon and researcher, Dr. Valentine Hyland. GLOBAL RESEARCH PROJECTS The Foundation is pleased to report that Dr. Jamie Stoller and Dr. Robert Sandhaus have identified Dr. Amy Attaway at the Cleveland Clinic, who has taken on the Global Guidelines project both in terms of identifying the similarities and differences in Alpha-1 Guidelines around the world and in coming up with areas of concordance that can be presented as a first attempt at a truly Global Guideline for Alpha1. Updates will be provided as they become available. The Global Research Registries collaboration, spearheaded by Dr. Charlie Strange, has not made major progress yet as funding for new registries in Australia and South Africa is not in place. Dr. Strange will continue dialogue with the coordinators of the new EARCO (European Alpha-1 Research Collaboration) about future collaboration. Updates will be provided as they become available.
GLOBAL CONNECTION AND NETWORKING Our quarterly Alpha-1 Leadership video conference continues to be a good networking tool between leaders and an important time for face-to-face peer connections. Each person provides a country update, which often stimulates new conversation, as leaders consider how a success from another country could be implemented in theirs. The video conference has proven to provide an environment that is engaging and encouraging, especially for leaders of smaller associations. Alpha-1 Global also maintains a closed Facebook Group consisting of 42 leaders, to provide ongoing connection and communication as many individuals are not able to make the quarterly calls due to work or time zone conflicts.
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Participants vary per call. This meeting included representatives from Austria, New Zealand, Norway, Denmark, South Africa, Belgium, the UK, Lebanon, Germany and Romania.
2017-2018 MASTER CALENDAR Alpha-1 Global’s annual calendar of events reflects participation in relevant meetings, ensuring best community representation. The 2017-2018 master calendar required coordination between a myriad of meetings and events, including: patient association meetings, Alpha-1 Athlete Karen Skalvoll’s activities, meetings of the European Respiratory Society (ERS), European Lung Foundation (ELF), European Reference Networks (ERNs), European Alpha-1 Registries Collaboration (EARCO), European Rare Disease Network (Eurordis), Platform of Plasma Users (PLUS), International Plasma Protein Congress (IPPC) and the Latin America Thoracic Society (ALAT).
Above: Alpha-1 Norway Oslo Marathon. Below: Romanian Lung Society Meeting, Oradea, Romania
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In the fall of 2017, Alpha-1 Global participated in the following patient meetings: • • •
•
Alpha-1 Norway annual meeting, including the Oslo Marathon (3 km) Alpha-1 Ireland annual meeting Alpha-1 Canada annual meeting The Romanian Lung Society annual meeting in Oradea, Romania (including a patient meeting)
7th ALPHA-1 PATIENT CONGRESS The Sheraton Hotel in Dubrovnik, Croatia, was chosen as the site for the Global Patient Congress in 2019. Patient leaders, physicians and scientists from around the world will come together to discuss the latest developments in patient advocacy, clinical care and Alpha-1 research. The International Research Conference on Alpha-1 Antitrypsin will take place on April 3-4, followed by the Patient Congress on April 5-6, 2019.
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Patient Support Network The Alpha-1 Foundation’s network of volunteer led support groups are dedicated to providing support, education and information and are led by devoted volunteers, mostly Alphas themselves, who are committed to helping individuals affected by Alpha-1 improve their quality of life. The network is comprised of 80 affiliated Support Groups throughout the country. 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 expanded leadership positions in California, Florida, Virginia, Massachusetts, Nevada, Texas, Washington, Missouri, Ohio, Michigan, Alabama, Colorado, Louisiana, Indiana, New York and Kentucky. 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.
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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 has: •
Over 5,000 Alphas, friends and family members attended support group meetings in their communities
•
Nearly 7,000 Alphas, friends and family members have utilized our Patient Support Network
•
80 support groups located throughout the United States and led by 117 Support Group Leaders and Co-Leaders
•
On-boarded 29 new SGLs during FY 2017-2018. Many filled positions open due to retiring SGLs and others began new support groups in 14 states: Washington, Virginia, Florida, Nevada, Nebraska, Missouri, Louisiana, California, Alabama, two in Ohio and three in Indiana
•
Acquired 10 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 a minimum of 8 new support groups in Ohio, New York, Virginia, Tennessee, Missouri Michigan, New Jersey and Colorado and existing groups in Oregon, Utah and Alabama will have new leadership
•
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
•
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 o “Research Registry, Clinical Trials & Latest Research Update” by Charlie Strange, MD o Alpha-1 Testing – What SGLs Need to Know o ‘Supporting the Family Caregiver’ by Mark Gibbons, Caregiver Action Network
•
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 41 | P a g e
o o
Information on current initiatives and processes to engage support group leaders and members to move the mission forward Advocacy update
•
Selected support group leaders were trained for taking an Advocacy Ambassador role and all were trained on the use of the newly launched grassroots advocacy platform. The Ambassador training took place using a program management platform and resources are maintained there for streamlined reference and refresher training
•
Piloted a session with the Caregiver Action Network (CAN), as they tested their modular program on caregiving. The SGL’s feedback was instrumental in the decision to move forward with a collaboration with CAN and have recruited the SGL to take a lead role in evaluating materials and the launch of those resources on our site
•
Conducted a day-long Support Group Leader Training held in San Francisco, CA immediately following the 2018 National Education Conference: o 64 Leaders and Co-Leaders were in attendance o The Ed Brailey Lectureship Hour was presented by Mark Gibbons, Senior Director for External Programs of the Caregiver Action Network (CAN) that encompassed both lecture and Support Group Leader participation
•
Organized 123 experts to present at the FY2018 support group meetings. Among these experts were 36 Clinical Resource Center physicians
•
Held 99 meetings where Support Group Leaders were presenters for various topics in areas in which they hold expertise, have been trained in by the Foundation or outside experts such as ‘Emergency Preparedness’. Other speakers included support group members who shared their Alpha-1 and transplant journeys
•
Diversified leadership to include individuals who are teachers, engineers, government workers, business professionals, scientific and medical professionals including 9 registered nurses, a family practice physician, EMT, LPN, LVN, RRT, PhD and genetic counselor
•
Implemented the use of technology to allow experts to virtually provide valuable information to the support group attendees via SKYPE and other telecommunication programs. 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 three presentations in California, Illinois, and Texas Kim Foil, Genetic Counselor, gave six presentations in Arkansas, Florida, Idaho, Ohio, Louisiana and Virginia Skip Scribner, RRT, Advanced Aeromedical, Inc gave one presentation in Florida on Traveling with Oxygen Jonathan Maidment gave one presentation on his fundraising projects in Virginia
•
Arranged for Support Group Leaders to speak to the staff and donors at 18 Plasma Collection Centers in Florida, Maryland, Virginia, Louisiana, Colorado, Ohio, Washington, Kentucky, Michigan, Texas and two each in North Carolina, Arizona, Indiana and Georgia 42 | P a g e
•
Prepared SGLs to staff 21 National Association for Continuing Education (NACE) Conference exhibits in Virginia, Maryland, Massachusetts, Ohio, Colorado, Texas, Tennessee, Missouri, Alabama, Michigan, New York, Virginia, Indiana, Louisiana, Georgia, three in Florida and three in California. Several of these Leaders told their story to the audience of primary care physicians, nurse practitioners and physician assistants
•
Emphasized the benefits of SGLs to make Plasma Center Tours available to their groups where possible. This year 12 Leaders have facilitated these ‘field trips’ for their groups. There were two CSL Behring tours in Florida and Arizona and ten Grifols tours in Michigan, Georgia, Louisiana, Pennsylvania, Nevada, Texas, Virginia, Maryland and two in California
•
There were 609 total calls made to the Patient Information Line in FY 2018. Top 3 reasons for calls: • Discuss Symptoms • Find an Alpha-1 Specialist • How to Get Tested
Caregiver Support To address the need to support caregivers in our community (>14% of the respondents to the Patient Focused Drug Development (PFDD survey)), we consulted with Jane Hamilton of Partners on the Path and conducted a caregiver focus group. Questions related to our caregiver programs satisfaction were included in the focus group and responses provided significant data for driving support program development for caregivers in our community. We continued to examine potential partnerships for the development of a sustainable program, ultimately identifying National Health Council member, Caregiver Action Network (CAN) as that collaborator. Work completed to date: • • • • •
The Caregiver’s webpage was optimized and relocated to increase access. This move resulted in a 245% increase in views comparing the same period in the year prior Marketed the availability of caregiver peer guides in our network Provided caregiving workshops at the National Education Conference Support Group Leaders were trained in a modular course delivered by Mark Gibbons, Director, Caregiver Action Network. A session on Caregiving was included on the agenda at the National Conference and featured Bonnie Chakravorty, Ph.D. MSW CHES, an Alpha who has received a double lung transplant, who was also a caregiver to her Alpha husband who also received a double lung transplant.
Mental Wellness Ours efforts to both identify and appropriately address the widespread anxiety and depression in our community continues. Collaborations with other leaders in the rare disease space are underway, and a contract with Mental Health America (MHA) is now in place. The collaboration will allow to share best practices and streamline the implementation of programs to address anxiety and depression in our communities. MHA provides many mental health screening tools and appropriate resources for those 43 | P a g e
with results indicating support is needed. We have evaluated the screeners and identified those that will be most beneficial to our community.
Approach The Foundation supports the continued growth and vitality of the Patient Support Network and enhances its resources toward improving the quality of life for individuals and their families affected by Alpha-1. The demographic and 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 2019 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.
•
Training events will be developed and added to various 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
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aligned with initiatives in the community and may fall under the umbrellas of development, advocacy, access and reimbursement, detection, CRC liaison readiness, etc. •
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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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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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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Remote services will continue to be built 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 at various education days 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.
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The launch of caregiving sessions/breakouts and pertinent content in our support group network will continue to measure the impact of the Caregiving training that took place in 2018.
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Mental Wellness screens will be added to www.alpha1.org. Emphasis will be placed on Anxiety and Depression, but mental health screens and resources for Parents, youth, addiction and bipolar will also be available. All clinical information and recommendations, as well as resources will be provided by experts in the field and facilitated by MHA’s content.
Educational Scholarships The Alpha-1 Foundation provides educational scholarships to Alphas and their immediate family members who have been accepted to study at an approved institution such as an accredited university, community college or technical institute. This program is designed to assist those in need to further their post highschool education. This year, a total of 5 Educational Scholarships were awarded to deserving individuals.
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The Peter Smith Educational Scholarship for 2018 was awarded to Patrick Trunfio from Townsend, Delaware. Patrick was diagnosed with Alpha-1 when he was a few weeks old and has been aware of his condition for as long as he can remember, but luckily has not been affected by it. He enjoys lacrosse and has even worked as a soccer referee. “I plan to use the scholarship award towards my tuition this upcoming year, as I attend the University of Southern California and major in mechanical engineering”, expressed Patrick. “Thank you”. Kayla Hart is honored to have been awarded the Robert J. Haggerty Memorial Scholarship. She is from Columbia, Connecticut, and is currently researching Alpha1 for her senior project. Kayla’s grandparents are involved in the Alpha-1 community and she shares with them the passion to promote awareness and support to those affected by Alpha-1. “The most important lessons I have learned from Alpha-1 are perseverance and hope. I will use the scholarship to help pay for college expenses. I want to go into nursing with a specialty in the pulmonary field, to further educate myself about lung conditions like Alpha-1”, Kayla says. From Culver, Oregon, Cole Little was the recipient of this year’s John W. Walsh III Memorial Scholarship. His dad is an Alpha who just received a double lung transplant, and he and his brother are both advocates for Alpha-1 and the importance of being an organ donor. “I use my brother's website as a starting point for advocacy, as well as our personal story. I am going to Oregon Tech to play baseball and be a mechanical engineer. The scholarship money is a huge help, especially now that my dad is off work due to his transplant”, says Cole. The Terry L. Young Memorial Scholarship was awarded to Owen Dubble from Bernville, Pennsylvania, who will be using his scholarship award to help pay his tuition at Penn State University, where he is a pre-mechanical engineering student. “My personal experience with Alpha-1 has been a rollercoaster of emotions. One of them is my grandparents’ annual Alpha-1 fundraiser dance. Here I get to see the Alpha-1 community support system and how family and friends come out to support those who suffer from the condition. It always makes me appreciate what I have a little bit more,” says Owen. Catherine Dyszel, from Girardville, Pennsylvania received the Lou Glenn Scholarship, which she will use it to fill a void in her financial aid to complete her degree. Catherine has gone back to college for a BS in Respiratory Therapy, as she decided to impact people’s lives just like those who have made a significant mark on hers. “I was diagnosed more than eight years ago and within days had an entire team of people at my disposal. The Alpha-1 community has put strong supportive, knowledgeable, compassionate individuals as detours to overcome the various road blocks on this journey,” Catherine expressed.
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Emergency Relief Fund The Emergency Relief Fund provides financial relief to Alphas and families in need. 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. This fund helped 64 families this year. 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. Financial assistance is provided based on need with a maximum of $500 for each individual. Guidelines limit an individual to a single request per person and stipulate that funds cannot be used for premium or co-payment assistance. 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 35 supplemental oxygen systems to support our community’s needs.
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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 Group Leaders, AlphaNet Coordinators 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 2018 Alpha-1 Education Series included a total of six (6) Alpha-1 Education Days: o o o o o o
Tampa, FL – February 24th Tulsa, OK – March 24th Richmond, VA – April 28th Omaha, NE – August 25th Detroit, MI – September 22nd Seattle, WA – October 20th
A total of 659 individuals attended the Education Days, 45% of which were first-time attendees and 8% of which were respiratory therapists. Additionally, 25 patients were provided with travel assistance to attend these events. Each Alpha-1 Education Day program agenda is developed by a committee of local Alphas, adapted to their specific requests. Building on past success, the Building Friends for a Cure program held walks in conjunction with Alpha-1 Education Days in Tampa, FL on February 24th and Richmond, VA on April 28th. Local Support Group Leaders are encouraged to attend Education Days held in their area and participate in a volunteer capacity. The leaders are able to greet and register the attendees and sometimes have a table in the exhibit area to answer questions and connect with first-time attendees. These events also provide an excellent arena to recruit new Support Group Leaders and members.
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Another key component of the Education Day program is to collaborate with the local Alpha-1 Foundation Clinical Resource Centers (CRCs) whenever possible. Local CRC physicians participated and/or served as hosts for all Education Days this year. A representative of the Alpha-1 Foundation 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.
Approach Six cities have been chosen to host Alpha-1 Education Days in the upcoming year. • • • • • •
Phoenix, AZ – March 9th St. Louis, MO – March 30th Portland, OR – May 4th Denver, CO – August 3rd Minneapolis, MN – September 28th Philadelphia, PA – October 26th
As the Alpha-1 community continues to grow, the Foundation understands the need to expand its reach to those who cannot physically attend events and give them the opportunity to learn about their condition and find resources. The Foundation is testing methods to share Education Days virtually via Facebook Live and live stream. This way, Alpha-1 patients and their families and caregivers can watch the Alpha-1 experts’ presentations from wherever they are on a home computer or mobile device. 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. 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. 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. 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 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 and get involved in advocacy. As the largest gathering of Alphas and their families in the world, it also provides industry an opportunity to interact with patients directly regarding their products and services and to convey their commitment to the Alpha1 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.
Accomplishments The city of San Francisco, California was the site of the 27th Annual Alpha-1 National Education Conference on June 29 – July 1, 2018. The event had 565 people in attendance and 30% were Alphas and family members attending for the first-time. Alpha-1 Foundation Board members, over 65 Support Group Leaders, 55 AlphaNet Coordinators and Foundation staff took an active role at the conference and were a valuable resource to the attendees. The theme was On Track for a Cure: Connecting the Community. Finding the cure is the Foundation’s number one goal and connecting the community is critical if the Foundation is to accomplish its goal. 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 Driving New Therapies and Tools in Alpha-1 were on the Friday agenda. Late Friday afternoon, a Community Engagement forum and ice cream social gave attendees the opportunity to meet and greet community leaders and fellow Alphas, friends and family. The forum provided a platform for attendees to interact and learn about Foundation programs such as Alpha-1 Kids, Alpha-1 advocacy, Building Friends for a Cure, Support Groups and Peer Guides. Friday afternoon’s popular session called, “Meet the Experts,” allowed attendees to meet personally with Alpha-1 specialists in a small group setting. These oneon-one 15-minute conversations are scheduled in advance and provide attendees with access to a physician and an additional session with our genetic counselor. This year, there were appointments available with seven Clinical Resource Center physicians and the Alpha-1 Genetic Counselor. Over 60 Alphas and their family members met with Clinical Resource Center docs to ask their questions.
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On Saturday there were 25 informational sessions on varying subjects related to Alpha-1, from new treatment therapies and nutrition to the importance of participating in clinical trials, and the most updated information on liver and lung transplants. Each year, greater efforts are made to increase the reach of the National Education Conference and ensure that the community members who are unable to attend are still able to participate and share the experience. For the last two years, Facebook live and webcast (slides and audio) were available for remote viewing of the conference. Facebook live was used for the general sessions and one afternoon track, and webcast for the other three Saturday afternoon tracks. This year, live coverage was also made available for the Friday afternoon tracks and the Friday and Saturday evening awards presentations. The technology used for Facebook live was enhanced to bring the live video and presenter’s slides together, and to use the integrated conference audio for better image and sound quality in the transmissions. Nearly 16,000 individuals viewed the sessions on Facebook. Conference Evaluations The 27th Annual Alpha-1 National Education Conference met the needs of the community and garnered great ratings and positive feedback. More than any other year, the community had many new suggestions for enhancements to the conference and new topics that they would like to see covered. On a scale of 1-5, with 5 being strongly satisfied, the Conference Content section was evaluated at an average of 4.75. Every year, the question “what is your reason for attending the conference?� is included on the evaluations. The surveys completed by the attendees overwhelmingly noted that these areas were education, knowledge and learning.
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Approach Plans are underway for the 2019 28th Annual Alpha-1 National Education Conference in Orlando, FL. It is anticipated to be the largest conference ever. Plans include to increase both social media integration and enhance the coverage of the conference with a larger scope and greater quality of our remote feed. One of the avenues being pursued is increasing the remote coverage of more aspects of the conference, including all Friday afternoon tracks and Facebook live of the other three Saturday afternoon tracks. The National Education Conference hosts 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 meet face-to-face with Alpha-1 specialists and receive answers to their personal questions. The Friday evening portion of the National Education Conference, which has for the last several years been in the form of Hospitality Receptions, will be restructured into one large reception-style event. The purpose of the restructuring is to focus on enhancing detection through the ‘patient journey’ and engaging individuals living with Alpha-1 and their families and caregivers, including those in the room and those participating remotely through Facebook live, through the following creative approaches: Personal Stories The evening will kick off with a short personal story from an Alpha. Throughout the evening, several different personal stories will be shared, encompassing all of the Alpha-1 Foundation’s constituencies including liver-affected Alphas, lung-affected Alphas, Alpha-1 parents and caregivers. These conversations will have a threaded theme: the patient journey. The purpose of these personal stories will be to highlight the need for enhanced detection and awareness of Alpha-1. Live Interaction To enhance conversations and receive input from the audience throughout the evening, trivia-like questions will be posed to the audience and their responses will be gathered via clickers on the tables or a mobile app. Live results will be displayed and shared. This live interaction component will provide the Alpha-1 Foundation and its sponsors with research data, providing focus group-like and interactive public opinion survey data about current Alpha-1 detection knowledge and perceptions. It will also provide ideas and creative group-provided solutions to posed problems.
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The following will be considered when planning the components of the evening: • • • •
AlphaNet Coordinator involvement Live interaction with the audience in the room Facebook live participant involvement Live conversations and input with instant results provided
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Alpha-1 Kids & Young Adults 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. The Alpha-1 Foundation also offers the Robert Seigman Memorial Scholarship 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 The Robert Seigman Memorial Scholarship provided 8 full scholarships for families to attend the National Education Conference and hosted 18 children in the Alpha-1 Kids room. Four additional families were provided with assistance for travel and/or registration related costs for the 2018 National Education Conference. An Alpha-1 Kids and Teen program included rooms for Alpha-1 Kids to gather and a meet and greet session conducive to sharing valuable information through discussions, networking, counsel, mentoring and support. 54 | P a g e
In FY2018 there were 3,849 visitors to the Alpha-1 Kids page. That readership came from 65 different countries, with the top five countries being: • • • • •
United States United Kingdom Canada Australia Russia
3,092 194 106 94 23
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
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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 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 – National Conference - Cathey Horsak, Director of Community Programs Alpha-1 Foundation State of the Union Address – Henry Moehring, President & CEO Genetics & Family Testing – Kimberly Brown, MS SGC A Child’s Transplant Journey Shared by Mom – Nicole Ward
Young Adults Discussion of the best way to reach and serve the young adult community was evaluated, 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. 55 | P a g e
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: •
Identifying the target audiences of parents of Alpha-1 kids (caregivers), teens and young adults to determine service and engagement gaps. Desired outcomes and prioritization of needs and programs that are required to address wellness, monitoring of disease progression and audience engagement in the Alpha-1 community will be discussed
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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 event
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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 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. Volunteers are given 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 develops several successful campaigns to create awareness of Alpha-1 each year. Most importantly, sustainable platforms for awareness that were created have been improved and continue to be used for annual campaigns including Rare Disease Day and Alpha-1 Awareness Month. 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. Alpha-1 Awareness Month Last year’s Alpha-1 Awareness Month plan included 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, 30 state proclamations and 7 county, assembly and city proclamations/citations. 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 Alpha1 throughout the year. Web Landing Page & Digital Toolkit A dedicated awareness month landing page is available – www.alpha1.org/awareness - 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
Social Media During the month of November, Alphas all around the world shared stories and images produced by the Alpha-1 Foundation. Over 25 images and documents were made available in the Alpha-1 Digital Awareness toolkit. Posts using #Alpha1Awareness flooded social media reaching over 127,000 people and garnering over 1,500 shares and 5,100 likes.
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Google Grants The Foundation has launched multiple campaigns using an award provided to us by Google. The grant provides us free advertising on Google and has secured significant traffic. The campaigns launched include advertisements relating to Alpha-1 (COPD, liver disease, lung disease, panniculitis), awareness activities (what is Alpha-1, the Foundation, ways to test) and advertisements of some Foundation related events. The strategy for campaigns and new advertisements continues to grow and be optimized to move the mission forward. Proclamations Support Group Leaders and AlphaNet Coordinators around the country teamed up to secure 30 state proclamations and 7 county, assembly and city proclamations/citations including: Alabama, Arizona, Arkansas, Colorado, Connecticut, Gainesville, FL, Georgia, Hawaii, Illinois, Indiana, Iowa, Kansas, Kentucky, Louisiana, Maine, Maryland, Mississippi, Missouri, Nebraska, Nevada, City of Sparks, NV, Reno, NV, New Hampshire, New York, North Carolina, Ohio, Scioto County, OH, Oklahoma, South Carolina, Pennsylvania, Utah, West Virginia, and Wyoming. Rare Disease Day 2018 The Alpha-1 Foundation, in conjunction with the National Organization for Rare Disorders (NORD), spread awareness of Alpha-1 during the month of February, for Rare Disease Day, and encouraged Alphas to get involved. The goal: to increasingly and more effectively involve patients in rare disease research. On February 28th, Rare Disease Day itself, people living with rare diseases – along with patient organizations, politicians, caregivers, medical professionals, researchers and industry – came together in solidarity to raise awareness of rare diseases, including Alpha-1 Antitrypsin Deficiency (Alpha-1). Following the theme of ‘Research’ for Rare Disease Day 2018, the Foundation shared twelve vignettes spotlighting Alpha-1 researchers, their location and the work they are doing using the hashtags: #RareDiseaseDay, #Alpha1Awareness, and #Alpha1Research. #HandprintsAcrossAmerica Now in its seventh year, Handprints Across America shows people observing Rare Disease Day across the nation in a variety of settings. NORD asks patients and families to print out the Handprints Across America flyer and submit a photo of themselves, their family, friends, colleagues, or others, holding it on social 58 | P a g e
media, with hashtag #HandprintsAcrossAmerica. The Foundation created a how-to video with a screen capture of how to participate in this campaign, and it was shared on social media. Rare Disease Events and Collaborations Support Group Leaders, Legislative Advocates and staff participated in the Everylife/RDLA Legislative conference and Hill Day on February 26 and 27, in Washington DC. The Alpha-1 Foundation attended the COPD: Innovation in Research congressional briefing on Tuesday, February 27, and the Rare Disease Caucus meeting on Wednesday, February 28, in Washington DC. The Alpha-1 Project, staff of the Foundation, members of the Board of Directors and legislative advocates attended the Rare Disease Day at the National Institutes of Health in Bethesda, Maryland. Topics were largely related to gene therapy/editing. The Alpha-1 Foundation participated in a one-hour long Twitter chat, hosted by the National Institutes of Health, to answer questions to the public. Every year, MassBio celebrates Rare Disease Day by bringing together nearly 300 industry stakeholders to elevate public understanding of rare diseases and call attention to the special challenges people with these ailments face. Board Member, Fred Walsh, participated in the panel as a patient advocate. Other Collaborative Relationships for Alpha-1 Awareness Alpha-1 Antitrypsin Deficiency was the focus of a Meet the Experts session at the 2018 American Thoracic Society’s (ATS) international conference. A general session on Living Well and Lung Health 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 Foundation’s Karen Erickson, and Alpha-1 specialists Robert Sandhaus, MD, Igor Barjaktarevic and Gerard Turino, MD were there to discuss the condition and resources with attendees. The Alpha-1 breakout session attendees included COPD patients curious about testing, caregivers, Alphas with bronchiectasis and patients with Nontuberculous Mycobacteria (NTM). The Alpha-1 Foundation is a member of the Clinical Trials Transformation Initiative (CTTI), with a designated staff member on the Steering Committee and other Foundation representatives at meetings pertinent to their expertise. Examples of target areas of guidance are, patient engagement, novel endpoints, mobile clinical trials, etc. 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 participated in projects 59 | P a g e
to develop and implement Novel Endpoints and the Use of Mobile Devices in Clinical Trials recommendation and is hopeful our community will be used as a pilot population in the resulting recommendation activities. 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 Co-chair position in the Coalition of Patient Advocacy Groups (CPAG) and is Co-Chair of the over-arching Rare Disease Clinical Research Network. The role facilitated multiple alpha-1 related presentations to be made in NCATS forums. Andrew Wilson, Mike Ionnatti and Terrence Flotte were all invited to present their work in Alpha-1, specifically on induced pluripotent stem cells, assay development and gene therapy, respectively.
The Alpha-1 Foundation was instrumental in agenda development for the October 2018, Rare Lung Disease Consortium meeting. Terrence Flotte used Alpha-1 to exemplify progress in gene therapy and also chaired an Alpha-1 break out session with Foundation board member and physician scientist, Jerry McElvaney. The conference hosted more than 400 researchers, clinicians, individuals with rare lung diseases, family members, patient advocacy partners and sponsors, with the central question: What are the potential impacts of cutting-edge technologies in rare lung diseases research?
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 ENewsletters to encourage participation and maximize visibility.
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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 and COPD experts to participate in a Meet the Experts session at the ATS International Conference in 2019. We will continue to collaborate with strategic alliances that we share common goals and target audiences with. As in 2018, Alpha-1 patient-representatives will work closely with the American Association of Respiratory Care (AARC), the American Thoracic Society (ATS), American Plasma Users Coalition (APLUS) 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 continue to fully utilize a Google grant we received. The grant provides us free advertising on Google which brings a potential flow of a large number of free ads.
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Genetic Counseling Program With detection efforts and resulting diagnoses increasing, it is vital that the newly diagnosed, their family members and their healthcare team understand test results and what it means to both the patient and other family members. The Alpha-1 Genetic Counseling Program provides comprehensive knowledge and education, as well as vital referrals to other supportive programs of the Foundation. It is a free telephonebased 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 Foil 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
The Genetic Counselor also makes presentations to Support Groups, at Alpha-1 educational programs, Virtual Support Group calls, and webinars. 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 6,000 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 indicate the criticality of the service. The program received a total of 668 new calls this year, and an additional 91 follow-up calls and 157 emails. The Genetic Counseling 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 counselor continued to receive many questions about the F, I and other rare alleles this year. The website was updated with information to include a “what does my genotype mean” section in the FAQs that includes F and I alleles. 62 | P a g e
The genetic counselor presented to patient and professional groups, including the South Carolina Society for Respiratory Care, MUSC Medical School, USC Genetic Counseling Program, Ashley Hall High School, Shire Industry Reps, AlphaNet, Alpha-1 Foundation Education Days (Tampa and Richmond), Alpha-1 Foundation National Education Conference (San Francisco) and 6 Alpha-1 support groups via Skype. 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 Foundation also exhibited at the National Society of Genetic Counselors Annual Conference (Columbus, OH) and at the American College of Medical Genetics Annual Conference (Charlotte, NC). The genetic counselor authored and submitted a manuscript of findings from the MUSC MZ Carrier Genomics Study that is under final review and was a contributor on the Alpha-1 and Cancer abstract that was presented at the American Thoracic Society Conference and Alpha-1 National Education Conference. New Caller Status The distribution of callers remained similar to past years. The most common caller categories are carriers and healthcare providers. Family members made up 21% of this year’s call volume, which is a slight increase over last year. The portion of “other” callers also increased, which includes individuals considering testing (often symptomatic or discovered Alpha-1 by an online search) or in the testing process but have not received results yet, and several who call for other genetic reasons. A total of 68 callers this year were severely deficient. The majority of these were newly diagnosed calling for initial explanation, information and recommendations. When only individuals with known genotypes are analyzed (healthcare providers and untested excluded), carriers make up 65% of results calls in FY2018 indicating that this continues to be an important category for research and consistent and accessible information. In FY 2018, 17 individuals called after receiving abnormal 23andMe results for Alpha-1; 3 were severely deficient (ZZ or SZ) and 14 had one variant detected (probable carrier).
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Initial Reason for Call Explanation of results is consistently the most common reason that people contact the Genetic Counseling Program. Patients under medical evaluation, ACT Study participants, those tested by direct to consumer testing and healthcare providers commonly call for results interpretation and discussion. Explanation of results was the reason for call for 37% of calls this year (36% of calls last year). Testing options remains an important 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.
Top Topics Discussed Each of the top 10 topics in the FY 2018 chart below was discussed at least 118 times this year. The most common topic discussed this year was explanation of results (251 calls). “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. Symptoms, family member diagnosed, inheritance and risk for relatives, and available physicians and treatment options are other common topics discussed. 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 if they are not already engaged in Foundation resources and have abnormal results or a connection to Alpha-1.
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Referral Source Test results remained the most common referral source this year. Callers by test result referral include both healthcare providers and individuals who received Alpha-1 results from a clinical testing source. Such callers contact the Genetic Counseling Program for results explanation and discussion of next steps. The Alpha-1 Coded Testing (ACT) Study is another common referral source, as all recipients of ACT results receive information about the Genetic Counseling Program. Those with abnormal results and rare/null alleles are strongly encouraged to call. People also called at the suggestion of their family members or healthcare providers. This year 17 people called after direct-to-consumer testing by 23andMe.
Approach As more individuals utilize the testing opportunities provided by the Alpha-1 Foundation, industry partners in the Alpha-1 space 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 65 | P a g e
individuals, largely asymptomatic, are receiving “indications of predisposition” 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
•
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 Registry represents the largest cohort of Alphas in the world (97% of whom live in the U.S.). Currently there are over 6,300 individuals enrolled in the Registry (and over 7,000 enrolled since inception). This includes nearly 200 participants that are enrolled in the Clinical Resource Center (CRC) Registry. The CRC Registry is an enriched data source inclusive of clinical information such as lung and liver function. 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. 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 the Registry in advancing medical science.
Accomplishments Of the 6,300 Registry participants, 49% are severely deficient (ZZ or SZ) and 45% are carriers. Other genotype combinations now include F and I as well. Of the total number of enrollees, 61% identify as being lung affected. There are 257 children (under the age of 18) enrolled. Women continue to be the largest cohort representing 64% of enrollees. This year has also seen a significant increase in the percentage of on-line applications which has grown to 88% of all enrollees. The registry staff has made a concerted effort to assure that all enrollee’s contact information is current. This year up to date demographic information has been assessed at 99%. This process of examining the database is an ongoing quality initiative that is attractive to investigators as one of the largest obstacles in research is finding a sufficient number of volunteers to participate in studies. Since inception, the Alpha-1 Foundation Research Registry has recruited for 88 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. An important initiative of the registry is the institution of a registry model to provide de-identified open access that will facilitate the use of the data in publications. For example, the Registry is often queried by investigators for demographic information to assist in geographically targeting a study population.
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Most importantly, the registry was the origin of two significant publications this year: • Stolk J, Stoel B, Parr D, Ficker JH, Strange C. Transitioning clinical data into patient care: recent real-life experiences with Alpha-1. EMJ Respir 2017 5(1):32-40. • Strange C. Anti-Proteases and Alpha-1 Antitrypsin Augmentation Therapy. Respir Care. 2018 Jun; 63(6):690-698.
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. Marketing the registry to a dual audience of potential participants and investigators is an ongoing process. Alpha’s are invited to explore current studies in which they may qualify to participate. Study criteria is in plain language and the registry coordinator is versed in the study parameters and able to talk with interested candidates. The power of social media is also employed to inform Alphas about opportunities to become involved in clinical trials and other research. The Foundation’s Clinical Resource Centers are routinely contacted by the Foundation’s Clinical Director about studies currently enrolling. Studies are summarized with study rationale, inclusion/exclusion criteria and procedure. CRC physicians are asked for their help in identifying possible subjects and to utilize their medical network to inform their colleagues. Each Alpha-1 physician specialist in the CRC network has agreed to promote enrollment in the registry to all of their patients. Moreover, the Research Registry newsletter, produced semi-annually and mailed to all registry participants is a rich source of information regarding study recruitment. Most importantly it often contains the progress of Alpha-1 research projects both nationally and globally.
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Family Testing / Testing Days Improving the lives of people affected by Alpha 1 is a commitment of the Foundation. To that end detection is most germane and integral to detection is the family testing program. 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 Inherent with a genetic disease is the burden of speaking to family members about the importance of being tested. The Foundation is vested in easing this burden by providing talking points that help start that conversation. 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. Social media serves as a platform for reminders to discuss family testing to the Alpha community. Clear, timely messaging underscores the mission of communicating with family members about testing. Aside from the digital presence on Facebook and Twitter, the Foundation’s website provides a wealth of information on all aspects of identification and management of Alpha-1. The Clinical Resource Center (CRC) network remains instrumental in promoting Family Testing. This year, three 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. The physician champion of the event, a CRC specialist, receives the results and notifies the participant. The results letter also contains information about Alpha-1, confirmatory testing, availability of genetic counselor and encouragement to share the results with their healthcare provider. This year testing days were held in Port Charlotte, FL, Lewiston, ME and Portsmith, OH. Testing Days serve not only to provide an opportunity for the target population to be tested, but for Alpha-1 to be showcased at healthcare venues such as hospitals and clinics. This awareness serves a great purpose in educating the medical and allied health professionals in the area.
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Approach An essential component of detection is targeted testing. Those individuals who have a diagnosis or family history of COPD; family history of Alpha-1; unexplained liver disease or panniculitis are included in the targeted population. The Foundation will continue to promote Family Testing across all programs. At the Alpha-1 National Education Conference in San Francisco, the importance of family testing was included in presentations by leadership and the keynote speaker. The agenda for next year’s National Education Conference in Orlando will include a discussion on the impact of genetic testing on family dynamics. The session will include a panel of Alphas and their families to present personal stories, the Foundation’s genetic counselor and a social worker certified in family counseling. The expectation is to provide an arena where Alphas can engage with peers and experts and be afforded an opportunity to learn communication techniques that will assist in talking with their loved ones about getting tested. Also, building on the experiences and lessons learned from testing events, the Foundation plans to hold additional testing days across the country. The locations that are in the planning stages include Danbury, CT, Minneapolis, MN, Rapid City, SD and Fayetteville, NY. 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.
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Alpha-1 Coded Testing (ACT) Study The Alpha-1 Coded (ACT) Study provides a way for those at risk, including family members of diagnosed Alphas, to learn their genotype. Many individuals at risk for Alpha-1 delay testing due to concerns about the privacy of test results and impact on insurability. This study is free and confidential, therefore not reported on medical records. The ACT Study participants are of all ages living in the United States, Canada, Puerto Rico and other U.S. territories. The study test kit is available on-line and through paper consent for those without internet access. 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. It is a vital reserve of data for the facilitation of research. To date there have been 25 studies and related publications. Research topics include but are not limited to behavioral health change, detection of Alpha-1 by allied health professionals, social impact of genetic disease, and the informed consent process. Recent publications include: •
Strange C. Anti-Proteases and Alpha-1 Antitrypsin Augmentation Therapy. Respir Care. 2018 Jun;63(6):690-698. doi: 10.4187/respcare.05933
•
Stolk J, Stoel B, Parr D, Ficker JH, Strange C. Transitioning clinical data into patient care: recent real-life experiences with Alpha-1. EMJ Respir 2017 5(1):32-40.
•
Haitham Al Ashry, MD, Charlie Strange, MD COPD in individuals with the PiMZ alpha-1 antitrypsin genotype. European Respiratory Review 2017 26: 170068; DOI: 10.1183/16000617.0068-2017.
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 the Medical University of South Carolina, 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. Newly diagnosed patients are encouraged to join the Alpha-1 Foundation Research Registry. The ACT Study has enrolled over 40,000 individuals since 2001 collecting data on the impact of at-home genetic testing. This year, severely deficient test results have returned at 5.1% and one deficient allele at 46% of tested individuals. Each year patients screened through the ACT Study significantly increases and last year was no exception to this upward trend. 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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Healthcare Provider Education
The Alpha-1 Foundation provides opportunities for healthcare practitioners to gain new knowledge, so they can, in turn; provide the best attention for Alphas in their care. Education remains an integral priority for advocating for an accurate diagnosis. 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, 6 Grand Rounds were held nationwide in a variety of hospital and clinic settings including: • • •
Coral Gables, FL Stone Mountain, GA Washington, DC
• • •
Rapid City, SD Silver Springs, MD Los Angeles, CA
These meetings feature our Clinical Resource Center physicians as presenters and are often supported by Alpha-1 volunteers who provide educational material and insight. By connecting directly with providers, these volunteers give a face to a rare disease that may have previously been unknown. The success of this series has led us to again pursue this learning platform in fiscal year 2019 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. An additional opportunity for Alpha volunteers 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. Additionally, 8 conferences were designed this year for Physician Assistants (PAs) and Nurse Practitioners (NPs) which widens the reach of the Alpha-1 message. The nationwide series includes a 1-hour presentation on Alpha-1. 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 change practice patterns. This year, the Foundation was able to present at 22 venues across the country including: • • • • • • • •
Anaheim, CA Atlanta, GA Baltimore, MD Birmingham, AL Charlotte, NC Dallas, TX Denver, CO Doral, FL
• • • • • • • •
Ft. Lauderdale, FL Houston, TX King of Prussia, PA Miami, FL Nashville, TN Orlando, FL Phoenix, AZ Raleigh, NC
• • • • • •
St. Louis, MO Seattle, WA Tampa, FL Troy, MI Uniondale, NY White Plains, NY
With over 248,000 licensed Nurse Practitioners in the United States, they are first line providers and their awareness of Alpha-1 is of utmost importance in detection. They provide primary, acute and specialty health care to patients of all ages. Their knowledge of this condition can increase the likelihood of a timely diagnosis and interventions to improve patient functioning, preventing further damage. In February the 72 | P a g e
Foundation launched a free on-line course for Nurse Practitioners. The course, authored and presented by Dr. Jamie Stoller, has the following learning objectives: • • • • •
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
The course offers one (1) contact hour for RNs and NPs. After viewing the presentation, correctly completing the test and program evaluation, a certificate will be issued. All allied health professionals may take the course and will be issued certificate of completion which they may provide to their professional governing board and request appropriate credit. To date nearly 200 professionals have accessed the course. A promotional flyer has been developed and is distributed 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 and the National Congress of Nurse Practitioners. Promotion of the course also included: • Printing of a full page color ad in the Journal of Nurse Practitioners’ May issue promoting the course • An Alpha-1-To-One magazine article • Recruitment at all NPACE /NAPNAP /AANP events • Creation of a social media campaign • Inclusion in the March Community Currents newsletter • Mailing of marketing flyer to all Clinical Resource Centers and Support Group Leaders • Distribution of marketing flyer by AlphaNet Coordinators to NPs and RNs • Announcement of course information on Support Group Leader call to encourage all Alphas to share with their healthcare providers The Foundation maintains its partnership with the Nurse Practitioner Associates for Continuing Education (NPACE) and exhibited at 9 conferences throughout the country. The venues included Boston and Cape Cod, MA, Fort Worth, TX, New Orleans, LA, Orlando and Clearwater FL, Indianapolis IN, Nashville, TN and Phoenix, AZ. 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.
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Last year the Clinical Practice Guidelines The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult, were published in Chronic Obstructive Lung Diseases: Journal of COPD Foundation. The guidelines are available for review at: http://a1f.org/clinical-guidelines. Based on those recommendations, the Foundation developed a pocket guide for healthcare providers. Detection Identification and Management of Alpha-1 Antitrypsin Deficiency has been widely distributed at all events and exhibits that garner a medical and allied health professional audience. The pocket guide has also been translated into Spanish.
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Clinical Resource Centers The Clinical Resource Center (CRC) program was established with the goal to have institutions with special interest in Alpha-1 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 100 physicians at these centers 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 82 CRC sites, 26 of which have received Clinical and Translational Science Award accreditation. Clinical and Translational Science Award (CTSA) is a type of U.S. federal grant administered by the National Center for Advancing Translational Sciences, part of the National Institutes of Health. Institutions funded by the CTSA program are working with other research facilities to improve drug discovery and development. This program helps institutions create an integrated academic home for clinical and translational science with the resources to support researchers and research teams working to apply new knowledge and techniques to patient care. The program is structured to encourage collaborations among researchers from different scientific fields. The strength of this CRC infrastructure will form the basis for an innovative therapeutic development network that is currently in the planning stages. There is great value in joining the CRCs in a research project. Such an endeavor may be utilized for a study characterizing the MZ population or to create a data repository to monitor natural history of the disease. Strategies for potential projects are under consideration. The Foundation is vested in assuring all physicians in the network are knowledgeable in the care and treatment of Alphas. 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 the Foundation. This system helps assure that the community has access to practitioners that are well informed on the management of Alpha-1. 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. CRC sites are currently in 34 states and Toronto, Canada. The mission to provide our community with easy access to Alpha-1 specialists remains a strong commitment of the Foundation. 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 18 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. The biennial CRC Forum was held in September 2018 in Miami, Florida. Additional time was allotted this year for networking with fellow CRCs, industry partners and investigators. The overarching theme of the meeting was to provide an update on current Alpha-1 research and potential opportunities. The agenda included sessions on clinical trials, both ethical and logistical challenges of recruitment, the Foundation’s research strategy and clinical barriers of Alpha-1 management. 75 | P a g e
This was the most successful CRC Forum held by the Foundation based on the number of sites that attended and the quality of the discussion among the sites. The Foundation will be following up with all the CRCs based on the information shared during the sessions and look forward to shared educational and study opportunities utilizing the combined resources of our nationwide CRC network. All this is aimed at continuously improving the care of those affected by Alpha-1 Antitrypsin Deficiency. There are several action items identified that the Foundation was charged with addressing including: •
Informing CRC directors about studies currently enrolling and sending invitations to patients in their geographic areas to participate
•
Providing example letter templates to all CRCs to be used for a variety of insurance issues and appeals on behalf of Alpha-1 patients
•
Updating the Foundation website to include copies of the new physician’s pocket guide and promotional flyers to be easily accessible to CRCs and medical professionals
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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. Such meetings have been a high priority for the Foundation since inception as they spark interest in Alpha-1 and demonstrate the Foundation’s credibility within the rare disease community. The scientific 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 hosted 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 • Biennial Investigators’ Meeting: 2018 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2019
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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 • 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 Alpha-1 Foundation Approach to the COPD National Action Plan: 2018 There is a critical need to inform the entire interested community about the proceedings of these meetings. The Foundation has been successful in 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. Brantly M et al. MZ carrier state in alpha-1 antitrypsin deficiency: summary of the 16th Gordon L. Snider Critical Issues Workshop. Transl Sci Rare Dis 2018; 3: 105-120
Scientific meetings These conferences address special topics to advance our understanding of the biology of alpha-1 antitrypsin, thereby identifying new treatment targets, critical issues in disease management including its detection, and ethical issues. The meetings serve as a forum for stakeholders from academia, industry, 78 | P a g e
government and regulatory agencies, and patients to obtain input and advice from those who will regulate and fund clinical research, and/or benefit from the scientific initiatives. There are two recurring scientific meetings that deserve special attention. One is the 5th Biennial Alpha-1 Foundation Investigators’ Meeting that took place on September 7, 2018 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 100 people attended and 22 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 (MASAC) and Grants Advisory Committee (GAC), and members of the Foundation’s Board of Directors. The other notable planned scientific conference is the 4th Biennial International Research Conference on Alpha-1 Antitrypsin that will convene in Dubrovnik, Croatia on April 3-6, 2019 to bring the worldwide Alpha-1 and research communities together to forge partnerships that will bring us even closer to finding a cure for Alpha-1. The Foundation will be the primary host and organizer of this conference and will provide planning and logistical support. The conference theme will be disease progression and therapeutic options. Occasional conferences address emerging critical issues for the patient and scientific communities. For example, a recent conference summarized what is currently known about the risk of lung and liver disease in MZ carriers and made recommendations for future research needed to answer open questions. A summary of the proceedings of the meeting was published this year: •
Brantly M et al. MZ carrier state in alpha-1 antitrypsin deficiency: summary of the 16th Gordon L. Snider critic issues workshop. Transl Sci Rare Dis 2018; 3: 105-120
Advocacy and educational meetings These conferences address diverse issues that are not directly related to research but are critical to the Foundation’s mission which includes advocacy, disease management and a broad educational program. As new challenges emerge that require input from stakeholders and experts, the Foundation continues to organize meetings to discuss strategies to meet those challenges. Currently in the planning phase is the program for the 17th Gordon L. Snider Critical Issues Workshop, to be held in New York, NY on November 15, 2018. The workshop, entitled “The Alpha-1 Foundation Approach to the COPD National Action Plan”, will include expert representation from academia, industry, the NIH, and patients. The COPD National Action Plan’s objective is “to help transform our approach to COPD and save lives.” Alpha-1 Antitrypsin Deficiency is the only known genetic form of COPD, and the Alpha-1 Foundation must be part of the effort in achieving this objective. One of the five goals of the action plan is to improve the prevention, diagnosis, treatment and management of COPD. The Foundation therefore has identified three areas in which future programs could have a positive impact: The Role of Exacerbations in COPD, COPD Targeted Detection, and Emerging Biomarkers in Alpha-1 and COPD. In order to summarize what is currently known in these areas 79 | P a g e
and to propose new approaches to advancing the field, the Alpha-1 Foundation has designated this workshop for the Foundation’s approach to the COPD National Action Plan. We have a tremendous opportunity to advance COPD and Alpha-1 Antitrypsin Deficiency research while transforming policies and recommendations into concrete action. The workshop’s theme is of importance to academic investigators and clinicians, industry, the NIH and the patient community and we hope to have strong representation from these stakeholders. Also in the planning stages is the 18th Gordon L. Snider Critical Issues Workshop entitled, “Detection of Alpha-1 Antitrypsin Deficiency: The Past and Future.” The workshop will include a summary of the state of detection including newborn screening, the Florida Detection program and the Alpha-1 Coded Testing (ACT) Study. The meeting will focus on the future models of novel COPD targeted programs, family testing, direct-to-consumer genetic testing, how to handle carriers, how to incentivize providers to test and other pertinent topics. The meeting is currently scheduled to take place in June 2019 in Washington, DC. Invitees will include academia, the NIH, FDA, industry, voluntary health care organizations and patients. The Alpha-1 Foundation and The Alpha-1 Project are jointly planning to sponsor a scientific meeting entitled “The Promise of Gene-based Therapies for Alpha-1 Antitrypsin Deficiency” to summarize what has been accomplished so far in gene therapy and gene silencing for Alpha-1 Antitrypsin Deficiency related liver and lung disease. Academic and industry investigators will review the state of the art, present their own data and share their view on the future of these therapies. The Foundation expects the participating scientists to report what has and what hasn’t worked in this area of research, and to identify future approaches to gene-based therapies. Foundation-supported basic research has had a major role in clarifying the basic mechanism of and targets for novel therapies for Alpha-1 liver and lung disease. Genedirected approaches are based on those research findings. Although gene-directed interventions currently are not available clinically, early studies show promise. The time is therefore ripe for addressing this topic in a scientific conference. Therapeutic Development Network Planning Meeting A Therapeutic Development Network (TDN) is a collaborative initiative that brings together experts from across the country to evaluate the safety and effectiveness of new Alpha-1 therapies through clinical studies. The TDN promotes quality, safety, and efficiency in Alpha-1 clinical trials by centralizing and standardizing the research process. The TDN will provide a protocol review process and access to shared expertise from the top Alpha-1 investigators. Collaborating with the TDN gives investigators and industry sponsors access to resources that will help them ensure efficient study design, optimize clinical trial execution, and obtain the highest-quality data for their Alpha-1 clinical trials. The development of a TDN requires a heavy regulatory burden and an adequate infrastructure in order to conduct clinical treatment trials and to support a research registry. The Alpha-1 Foundation will organize a planning meeting comprised of experts in the field of Alpha-1, TDN development, regulatory issues and patient care. Meeting topics will include the potential role of Clinical and Translational Science Awards (CTSAs) at academic institutions which could perhaps pull community-based physicians and CRCs into the TDN, what role the National Center for Advancing Translational Sciences (NCATS) could play through their Trial Innovation Network (which consists of the Trial Innovation Center, the Recruitment Innovation Center and the CTSAs) and the role of The Alpha-1 Project (TAP). Other discussion topics include strategies to activate the patient community including research ambassadors to communicate potential trials to the 80 | P a g e
community and the utilization of social media as a platform to increase patient engagement. The meeting will also focus on discussing potential patient focused drug development projects such as gene silencing/editing, corrector drug trial, interventional trial of inhaled alpha-1 antitrypsin, and biomarkers for early lung and liver disease. 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. These exhibits included major professional society meetings such as: the American Thoracic Society (ATS), American Association of Nurse Practitioners (AANP), European Respiratory Society (ERS), American Association for Respiratory Care (AARC), Pri-Med Southeast, 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. From May 20th-22nd, 2018, the Alpha-1 Foundation attended the American Thoracic Society’s (ATS) 2018 International Conference held in San Diego, California. The Foundation participated as an exhibitor at this annual conference to garner interest for its various research programs and to reach out to pulmonologists, respiratory therapists, and physicians from around the world. In addition, the Foundation also hosted an annual grant awards reception to highlight 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 Prado on Monday, May 21st and was a well-received event with over 150 attendees. The Foundation continues to prepare 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, the Medical and Scientific Advisory Committee (MASAC) meeting, the CHEST Annual meeting, the American Association for the Study of Liver Diseases (AASLD) meeting and the American Association for Respiratory Care (AARC) meeting.
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Grants and Awards Program Finding a cure for Alpha-1 is the ultimate goal of the Foundation. Currently, augmentation therapy is available to slow the progression of lung disease, but it is not a cure. Furthermore, there is no specific treatment available for Alpha-1 liver disease short of liver transplantation. Therefore, new interventions are sought after to ameliorate or cure Alpha-1 lung and liver disease. This need for new therapeutic solutions can only be met through basic and applied research. 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 $71 million to support Alpha-1 Antitrypsin Deficiency research and programs at 112 institutions in North America, Europe, the Middle East, and Australia. 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 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. This would not be possible without the many academic investigators whose discoveries have brought the field to this critical juncture. To further this strategy, the Foundation has established a new award in translational research named The John W. Walsh Translational Research Award honoring the late John Walsh’s desire to find a cure within the foreseeable future. He reminded us over and over again that the Foundation’s task is to “find a cure and go out of business.” While not there yet, 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. While this process has progressed farther in Alpha-1 liver disease, new discoveries for lung disease are also on the horizon.
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 research program has been divided into an National Institutes of Health (NIH) style review process with a Grants Advisory Committee that reviews new grant applications on an annual basis (in-cycle grants), and an out-of-cycle grant funding mechanism without a fixed submission date 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 ($75,000/year – 1 year commitment), Postdoctoral Research Fellowship grants ($75,000/year – 2 year commitment), and Research grants ($100,000/year – 2 year commitment). It should be noted that this year, the Postdoctoral Research Fellowship grant award has been increased to $75,000/year in an attempt to attract more young investigators in the Alpha-1 investigator community thereby guaranteeing a seamless transition from one generation of researchers to the next. The following list shows our current in-cycle grant recipients: Susan Ferro-Novick, Ph.D. - The Regents of the University of California Daniel Herbert, Ph.D. - University of Massachusetts Amherst Mariana Kirst, Ph.D. - University of Florida Stefanie Krajewski, Ph.D. - University of Tuebingen, Germany David Lomas, M.D., Ph.D. - University College, London, UK Pasquale Piccolo, Ph.D. - Fondazione Telethon, Italy Emer Reeves, Ph.D. - Royal College of Surgeons, Ireland Elizabeth Sapey, Ph.D. - University of Birmingham, UK Karina Serban, M.D. – National Jewish Health Richard Sifers, Ph.D. - Baylor College of Medicine Rita Vanbever, Ph.D. - Universite Catholique de Louvain, Belgium Andrew Wilson, M.D. - Boston University Bin Zhang, Ph.D. - Cleveland Clinic Foundation The Letters of Intent (LOI) for the 2018-2019 in-cycle grants program were due the end of September 2018. The Foundation received 51 LOIs, a record for the Alpha-1 Foundation’s in cycle grants program. The Grants Advisory Committee is currently in the process of conducting the scientific, peer review of the LOIs. 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 in-cycle grant categories. This program promotes research that could eventually result in the improved health of individuals with Alpha1 Antitrypsin Deficiency. Out-of-cycle grants can be Foundation-initiated requests for application (RFA) or Investigator-initiated applications. Gordon L. Snider Scholar Award Originally launched in 2014, this year marks the third 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. 83 | P a g e
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. Active Grants • Pasquale Piccolo, M.D., Telethon Institute of Genetics and Medicine, Italy “Regulation of Autophagy in Liver Disease Due to Z a1-antitrypsin” • Monica Goldklang, M.D., Columbia University Medical Center “A Role for MMP-13 in COPD Exacerbations in the Alpha-1 Community” 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. Active Grants • Joseph Kaserman, M.D., Trustees of Boston University, BU Medical Campus “Defining PiMZ AATD Liver Disease Susceptibility with CRISPR Targeted Syngeneic iPSCs” 84 | P a g e
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 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 are the recent matching grant awards: •
Alpha-1 Foundation/CHEST Foundation Clinical Research Award in COPD and Alpha-1 Antitrypsin Deficiency • Award: $25,000 (A1F contributes $12,500) • 2016 Grantee: Alice Turner, Ph.D. • 2017 Grantee: Diana Crossley, MBChB • 2018 Grantee: TBD
•
ATS/Alpha-1 Foundation Research Grant • Award: $80,000 (A1F contributes $60,000) • 2015 Grantee: Monica Goldklang, M.D. • 2017 Grantee: Alice Turner, Ph.D. • 2019 Grantee: TBD
•
AASLD/Alpha-1 Foundation Liver Research Grant • Award: $225,000 (A1F contributes $150,000) • 2015 Grantee: Yan Wang, Ph.D. • 2017 Grantee: Danielle Detelich, M.D. • 2019 Grantee: TBD
Recent Accomplishments The Foundation’s fiscal commitment to its grants program is $3.2 Million. From our past experience with similar previous annual investments, the Foundation expects significant new discoveries going forward. Several biotech companies have started early phase human studies using gene silencing to treat liver disease and investigators at the University of Massachusetts are in the process of improving gene therapy to replace augmentation therapy for lung disease by injection of the vector into skeletal muscle in humans. Other investigators are exploring other tissues that could be used for gene therapy. The research community has been waiting a long time for an Alpha-1 animal model to study the mechanisms of lung disease and for preclinical testing of new therapies. Dr. Chris Mueller at the University of Massachusetts has recently published an alpha-1 antitrypsin deficient mouse model for this purpose; it is already being used by other investigators in the community. Having this animal model is exciting because in the area of liver research the availability of a mouse model for liver disease has been instrumental in preclinical testing that now has led to early interventional human studies for Alpha-1 85 | P a g e
liver disease. The new animal model for lung disease is expected to have a similar effect on new drug development for Alpha-1 lung disease. Recently there has been a renewed research interest in Alpha-1 carriers and their risk of liver and lung disease. A recent conference entitled “MZ Carrier State in Alpha-1 Antitrypsin Deficiency” assembled experts from around the world to summarize our current understanding in this area. The conclusions of the meeting, published in the Translational Science of Rare Diseases journal has clearly shown that smokers with the MZ genotype are at risk of developing lung disease and liver cirrhosis. Clearly, there is a need for the Foundation to broaden its research agenda to include studies addressing the carrier state in addition to ongoing efforts to find a cure for patients with severe Alpha-1 Antitrypsin Deficiency. Collaboration with the National Institutes of Health (NIH) Traditionally, the Foundation has maintained links with various institutes of the NIH, notably the National Heart, Lung and Blood Institute (NHLBI), the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and the National Center for the Advancement of Translational Science (NCATS). These institutes include rare diseases in their programs, including Alpha-1 related lung and liver disease. Currently, we have two active collaborative efforts. The Foundation is sponsoring a research associate at NCATS’ laboratories where he is using their high throughput screening facility in search of new molecules that could reverse the cellular defects underlying Alpha-1 lung and liver disease. To date, several molecules have been identified that could be tested pre-clinically in Alpha-1 animal models prior to human trials. Another long-standing partnership has been with NIDDK’s Childhood Liver Disease Research and Education Network (ChiLDREN). The Alpha-1 Foundation is pleased to support the NIDDK renewal application to support the ChiLDREN Network. In 2004, NIDDK and Office of Rare Disease Research began funding the program at the Children’s Hospital Colorado (in Denver) under Dr. Ronald Sokol. The network was funded to study five rare pediatric cholestatic liver diseases, including Alpha-1 related liver disease. The principle investigator of the latter program is Dr. Jeffrey Teckman, a leading clinician and researcher of Alpha-1 at Saint Louis University and Cardinal Glennon Children’s Hospital. Since 2005, the Alpha-1 Foundation has been providing funding to support this effort. To date, close to 400 children have been enrolled to study the natural history of liver disease in children with a focus on its genetics, disease mechanism and clinical manifestations. Given that liver disease is the clinical phenotype of Alpha-1 in children and that there currently is no specific treatment for it, the Foundation is committed to continue its support of this program. The hope is that the emerging therapeutic interventions for liver disease will render liver transplantation obsolete.
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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 F o u n d a t i o n 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, 121 patients with Alpha-1 liver disease had been consented and 91 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 Education Conference in Chicago in June 2018. The Foundation’s Board of Directors and leadership is strongly committed to its research grant program and considers it the centerpiece of our quest to find a cure for Alpha-1. Investing in research is recognizing that without it will be difficult to conquer Alpha-1. In this context, it is reassuring that recent progress has brought us closer to the goal.
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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. completed this 3-year Fellowship in January 2018. Dr. Iannotti developed the assays and screening methodologies under the guidance of a Steering Committee comprising of the lung and liver experts affiliated with the Alpha-1 Foundation. Over 100,000 compounds were screened and the assays successfully isolated some 600 compounds. To be useful, these compounds will need to be further screened using the induced pluripotent stem cells (IPS cells) from patients. Both NCATS and TAP felt that a continuation of the collaboration will be beneficial. NCATS will contribute half of Dr. Iannotti’s time (Dr. Iannotti joined NCATS at the conclusion of the Fellowship), IPS cell expertise, reagents, and other resources. TAP will fund a laboratory technician for 2 years to assist Dr. Iannotti. NCATS used the NCATS/TAP collaboration as a case study for a successful partnership with a foundation during the NCATS day in July 2017 at the NIH headquarters.
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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.
Alpha-1 Research Community Initiatives 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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