Al pha1Foundati on 20162017ProgramsReport
Table of Contents Community Engagement ..............................................................................................4 Educational Material.................................................................................................................. 4 E-Education Library................................................................................................................... 5 E-Communications .................................................................................................................... 6 Alpha-1 Foundation Website ..................................................................................................... 9 ALPHA-1-To-One Magazine ................................................................................................... 12 Building Friends for a Cure ..................................................................................................... 14 Special Events ........................................................................................................................ 16 Public Policy, Advocacy and Access/Reimbursement ............................................................ 18 Alpha-1 Global ........................................................................................................................ 24 Patient Support Network ......................................................................................................... 28 Educational Scholarships ........................................................................................................ 33 Emergency Relief Fund........................................................................................................... 33 Oxygen Travel Assistance Program ....................................................................................... 34 National Education Series ....................................................................................................... 35 National Education Conference .............................................................................................. 38 Alpha-1 Kids & Young Adults .................................................................................................. 42 National Awareness ................................................................................................................ 44 Genetic Counseling Program .................................................................................................. 47
Detection & Research ................................................................................................. 50 Alpha-1 Research Registry ..................................................................................................... 50 Family Testing / Testing Days ................................................................................................. 52 Alpha-1 Coded Testing (ACT) Study ...................................................................................... 54 Nurse Practitioners & Respiratory Therapists ......................................................................... 55 Clinical Resource Centers....................................................................................................... 56 Continuing Education for Physicians ...................................................................................... 57 Meetings, Conferences and Events ........................................................................................ 59 Grants and Awards Program .................................................................................................. 63 Childhood Liver Disease Research and Education Network (ChiLDREN) ............................. 67 Liver Initiative .......................................................................................................................... 68 NCATS Fellowship .................................................................................................................. 69 DNA and Tissue Bank/LTRC .................................................................................................. 70
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The Alpha-1 Foundation maintains essential programs that drive its mission of finding a cure for Alpha-1 Antitrypsin Deficiency and improving the lives of people affected by Alpha-1 worldwide. Through dedication to this mission, the Foundation has fostered an informed, educated and cohesive community of patients, caregivers, families and healthcare professionals. The strength and support of our community, volunteers, researchers, clinicians and corporate partners enables the Alpha-1 Foundation to continually push the boundaries of detection, research, advocacy, learning and support to make a profound difference in the lives of Alphas across the nation and all over the world through the Alpha-1 Global program. In order to enrich advancements and successes in these areas, the Foundation has continued to implement a Strategic Plan to define our strategies, ensuring proper decision making and allocation of resources.
The roadmap to realizing success is the Strategy Map (see above). Starting at the bottom and continuing to the top, the map articulates that our financial resources, coupled with the support of employees and organization, is the groundwork that enables the Foundation to deliver the programs that bring value to our stakeholders; i.e. Alphas and their families, scientists and physicians, industry and government. It is a continually evolving plan that requires input from everyone in the Alpha community. This input allows the Foundation to continue to raise the bar; enhancing current programs and pursuing new initiatives.
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This report details mission-related accomplishments within the strategic objectives of the Alpha-1 Foundation. You will read about the depth and scope of the Foundation’s work—differences made, milestones achieved, and successes celebrated. These achievements were not attained alone; rather, it was the result of collective action, generous investment and firm commitment from our funders. Through all of these pieces, there is an important, common thread: together, we are making lasting impact on the community we serve. Thank you for being a partner of the Alpha-1 Foundation and for your commitment to improving the future of Alphas everywhere. 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.
Note: Activities outlined in this proposal may be subject to change based on funding received. Budgets outlined for each program are estimated and may need to be changed to meet certain unanticipated program requirements.
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Community Engagement At the Alpha-1 Foundation, Community Engagement means involving our community in all activities that do or could potentially impact the lives of those affected by Alpha-1. Since inception Alphas, family and friends have been active in voluntary leadership and raising awareness in their own communities. Our programs allow for us to identify, educate, engage and ultimately empower our Alpha-1 community members to make a difference, not only in their lives, but in the lives of Alphas everywhere. We have been successful in identifying relevant issues affecting Alphas and advocating for change, getting individuals involved in the support network, encouraging the community to come together and raise funds to support our mission, and in promoting participation in research studies to move us towards new therapeutic solutions and a cure. It is critical that our community knows we need their help and the avenues by which they can become and stay involved. Ensuring that our programs are able to facilitate such engagement among a diverse and growing community is vital to the continued success of the Alpha-1 Foundation.
Educational Material Educational materials on Alpha-1 provide validated medical information for physicians, medical professionals, individuals being tested and for all individuals and their families living with Alpha-1. The educational brochures are designed to increase knowledge and promote positive practices related to Alpha-1 testing, diagnosis and care among Alphas, their friends and families, those at risk for Alpha-1 and healthcare professionals. The materials are widely disseminated by the Foundation upon request through our website ordering page, email or over the phone; at patient and professional meetings; at all awareness and detection activities and via the AlphaNet On-Demand system. Educational information is a vital lifeline to individuals diagnosed with Alpha-1 Antitrypsin Deficiency and it is our goal to provide resources to help Alphas and their families lead a more positive and healthy life.
Accomplishments The Foundation continues to provide information to various audiences in our community, including patients and their families, Alpha-1 parents and healthcare providers. Efforts this year included the following: •
More than 39,500 brochures were distributed this year.
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All brochures are now being printed in our rebranded look: the new Alpha-1 Foundation logo, mission and distinctive colors and text style. The brochures are What is Alpha-1?, Am I an Alpha-1 Carrier?, It’s All in the Family (the family testing brochure), the Genetic Counseling Program (brochures both for patients and healthcare professionals), Be Part of Finding a Cure (Alpha-1 Research Registry), A Guide for the Recently Diagnosed, How to Find an Alpha Doc (help finding an Alpha-1 specialist), The Liver and Alpha-1 and A Healthcare Provider’s Guide to Alpha-1 Antitrypsin Deficiency. Our Educational Materials Working Group has reviewed the content of all brochures and their recommendations are being implemented in all new printings.
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The Community Engagement brochure is utilized to recruit volunteers and educate the Alpha-1 community about the various ways to get involved. Highlighted programs include: Support Groups, Patient Information Line, Insurance and Reimbursement Referral Line, and Genetic Counseling. It also highlights Education Days, the National Education Conference, Advocacy, Clinical Resource Centers, the Research Registry, Building Friends for a Cure, Family Testing and the Alpha-1 Coded Testing Study (ACT).
Approach The Alpha-1 Foundation will continue to evaluate the needs of the global Alpha-1 community, and answer those needs with consistently branded and translated materials. Fiscal year 2017 efforts will include the following: •
The Foundation will continue to update all current educational materials to ensure the most up to date information is circulated to our community.
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The upcoming healthcare provider pocket guide will be driven by the newly published guidelines, The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult, and will add value to both the patient and healthcare provider communities.
E-Education Library For Alphas, learning about their diagnosis is the first step towards empowerment. The E-Education library is comprised of a variety of educational presentations given by Alpha-1 specialists on a range of different topics that are geared towards patients, family members and healthcare providers alike; thus broadening our reach into the community. The library of videos is promoted through various communications and via social media to ensure that the community is informed when new presentations are available to view. It is comprised of over 390 presentations from Education Days and National Education Conferences and also includes the Family Awareness series videos. The E-Education library is also used as a tool for Support Group Leaders to educate those that attend meetings who are unable to travel to Education Days or to the National Education Conference. Finally, the library is also utilized by the global community to access information and educational material. The United States, Canada, Australia, Ireland, New Zealand and United Kingdom are the countries with the highest click rates on the videos. Spain, India, Pakistan, the Philippines and many more have viewed the videos as well.
Accomplishments The E-Education library has seen a substantial increase in plays during the last year; video plays totaled over 19,520, more than doubling the video plays of last year. Page | 5
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There has been a shift in devices used to view the presentations away from solely desktop computers. o o o
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Desktop (52%) Mobile (32%) Tablet (16%)
The top three E-Education presentations viewed in fiscal year 2016 have been: o
Alpha-1 Lung Disease by Alan Barker, MD
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Basics of Alpha-1 Lung Disease by James Stocks, MD
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Genetics of Alpha-1 by Kim Brown, CGC
Approach The E-Education Library will continue to expand with the addition of all upcoming Education Day and National Education Conference presentations, including those that are Livestreamed at this year’s Conference. Promotion of the library will continue to be made through our electronic newsletters and as an active link in social media postings and feeds.
E-Communications It is important to keep the Alpha-1 community and volunteer leadership up to date on Alpha-1 related news, research, programs and engagement opportunities. The Alpha-1 Foundation’s ENewsletter, Community Currents, is a monthly newsletter that accomplishes that goal. 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 bulletin is used to distribute updates on a number of different topics, community initiatives and training content to volunteer leaders. A password protected portal was recently developed on our website to allow the support group leader network to have immediate access to training events, meeting recordings, orientation programs and Page | 6
continued learning activities. All leader related documents and information is housed on the portal and allows for the Support Group Leader Coordinator to send messages to all leaders notifying them of new content, privacy requirements, best practices, and other tools to facilitate consistent and effective support group meetings across the country.
Accomplishments The E-Communication strategy included: •
Distribution of Community Currents to all individuals in our database
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Targeted listing of sections in Community Currents to link readers to related news and initiatives on the website: o 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 A “Classifieds Ad” was used to solicit the participation of National Education Conference attendees in the development of a Caregivers’ educational tool.
Approach The E-Communication plan includes the following: •
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Utilizing electronic platforms that will increase our reach in both a broad and targeted fashion. This strategy will allow for new and continuing engagement opportunities within our community as it will reinforce existing information as well as deliver updates and new information to those already in volunteer leadership positions.
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Highlighting sections of the ALPHA-1-to-One Magazine and promoting each issue as it is circulated and published on our website.
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Sustaining a “Classified” section in the newsletter to ensure that community initiatives provide for volunteer engagement opportunities. This will allow the Foundation to solicit for skill-based volunteer roles on specific projects.
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Continuing to circulate the Support Group Leaders Networking and News bulletin to keep Leaders informed and current on various topics as well as utilize the Support Group Leader Portal to house key documents necessary to facilitate consistent and effective meetings.
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Alpha-1 Foundation Website The Alpha-1 Foundation website is one of the best tools available to provide information to Alphas, family members, the medical and scientific community and the general public. It is most commonly the first contact that newly-diagnosed Alphas and their family members have with the Alpha-1 Foundation, and in many cases, their first source of information about Alpha-1 Antitrypsin Deficiency. The website is updated nearly every day, often more than once, with information, news, upcoming events and personal stories of those living with Alpha-1. The section for healthcare providers offers physicians useful and authoritative guidance on diagnosing and treating Alpha-1, links to specialists for referral and consultation, and help explaining Alpha-1 to their patients.
Accomplishments This year the website statistics have climbed once again: •
The website had 391,540 unique visits, a 12% increase over the previous recordbreaking year.
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Our highest month for visitors was March, with 37,140 visits.
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We had more than 21,000 visits to our Augmentation Therapy section. The section provides complete information to both patients and the medical community, including the goals of augmentation therapy, things to know before beginning therapy, the current therapies available, possible side effects, the pros and cons of “ports” (central catheters) for infusion, helpful resources and FAQs.
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More and more of our visitors are using mobile devices – smartphones or tablets. This fiscal year we saw yet another increase to 203,000 mobile visits, a 27% leap from last year. More than half of all visitors to our website are now on mobile devices.
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Approach The goal this year is to maintain the Alpha-1 Foundation website’s rank at the top of all searches. We are currently working with search engine optimization (SEO) experts to develop a strategy and build internal expertise. Additionally, a special intent campaign is being launched as part of the SEO strategy to drive significant traffic to our site from searches that contain Alpha-1 and Alpha-1 related symptoms. The Foundation has produced a whiteboard video that is hosted on the website and distributed though Social Media. The video provides education on Alpha-1 through the lens of an individual’s Alpha-1 diagnosis and interaction with a doctor. It also directs medical professionals to the Clinical Treatment Guidelines for the Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency in the Adult. This video offers us many opportunities to reach target audiences in varied arenas both inside and outside of our Alpha-1 community.
Social Media The Alpha-1 Foundation aims to stay current in using social media and technology to reach our community. We continue to grow our presence on Facebook, Twitter and Instagram to help raise awareness about Alpha-1 and keep our community up to date on new and pertinent Alpha-1 information. Through the Foundation’s social media pages, Alphas and their friends and families can communicate with other Alphas, keep current with the latest Alpha-1 news, be notified of upcoming events and help raise money through the Building Friends for a Cure program. The Foundation’s pages allow people to get connected and stay connected to other Alphas. The Foundation has over 8,500 fans on Facebook, an 18% increase over the last year, more than 1,860 followers on Twitter, and 908 followers on Instagram, nearly doubling the number of followers in the first year of use. We also gained 34 new followers on the first day the Foundation’s Snapchat was created. Interested parties are tagged on all social media platforms to promote post sharing and viral posts. Posts regularly include relevant hashtags and create traffic to relevant material at the Alpha-1 Foundation. During this fiscal year, Facebook led 34,923 people to our website and was the Foundation’s top referring website. Of those Facebook visits, 66% came from a mobile device such as a smartphone or tablet. Overall, more than 200,000, or 52% of website visits, were using mobile devices as opposed to only 1,587 in fiscal year 2010 (only 1.4% of the total of visitors). Most importantly, the Foundation is using the increased reach to ensure current initiatives are viewed by as many readers and varied audiences as possible. We have been successful in garnering collaborative relationships with other rare disease Page | 10
organizations, research communities, healthcare providers, and large societies. Our social media platform is used as a launching vehicle for programs and initiatives that the Foundation establishes. This currently includes distribution plans for the whiteboard video about the Clinical Treatment Guidelines for the Diagnosis and Treatment of Alpha-1 Antitrypsin Deficiency in the Adult, to be launched via our social media platform. In addition, we are proposing another popular kind of social media this year: The Alpha-1-To-One Audio Podcast. It will be a monthly podcast intended to educate Alphas, family, caregivers and healthcare providers through captivating personal stories of how individuals became involved in the Alpha-1 community, and what motivates them to continue their work. The Alpha-1-To-One Podcast will expand the Foundation’s existing media platform to a new audio medium that will interest existing readers of Alpha-1-To-One magazine, but most importantly, will reach a different audience who are searching for information about Alpha-1, but aren’t as inclined to read a magazine. The podcast will build on the success of the magazine and its brand equity within the community. Like the magazine, it will provide “Practical advice, personal experiences and pertinent news for people touched by Alpha-1,” with strong appeal to the next generation of the Alpha-1 Community.
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ALPHA-1-To-One Magazine ALPHA-1-To-One magazine provides practical advice, personal experiences and pertinent news for people affected by Alpha-1. ALPHA-1-To-One is an excellent source of news and a successful support and education tool as well. Every issue of ALPHA-1-To-One spotlights a leading Alpha-1 researcher or physician, a community leader, an Alpha-1 family, or someone who played a vital role in our community. Three issues are produced each year and subscriptions are free.
Accomplishments ALPHA-1-To-One regularly runs a minimum of 28 pages and up to 36 pages, with 25,000 copies printed per issue. Magazine covers most recently featured Mark Brantly, MD, a leading Alpha-1 physician and researcher since the 1980s; Frank Willersinn, MD, who made the most of a second chance at life and is now chairman of the Alpha-1 Global Steering Committee and member of the Foundation Board of Directors; and Karen and Ron Fraser, who put the Foundation on the map with our first major fundraising events. Popular features in every issue include updates on support groups and Alpha-1 Kids, an AlphaNet coordinator’s story and an extended, more detailed calendar of events. Each Clinical Resource Center receives a bundle shipment of magazines for patients in their practice.
Approach This year’s three full-color issues will include: •
A cover story interview with Henry Moehring, our new President and CEO
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Clinical Resource Center physicians as frequent contributors providing the answers to the regular Q&A feature “Ask the Alpha Doc”
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An update on Honor My Directives, a new app designed to help ensure that end-of-life decisions such as advance directives are followed by families and medical professionals
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A new page on “Alpha-1 studies now enrolling” listing research opportunities that community members may want to take part in
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An interview with Jean-Marc Quach of The Alpha-1 Project, including some exciting new investments in potential therapies for Alpha-1
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A feature on world-leading research into gene therapies and revolutionary gene-editing techniques by Alpha-1 researchers at both the University of Massachusetts and Boston University
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Articles on our advocacy efforts for better access to care for Alphas, including access to proper medical oxygen equipment; and efforts to include Alpha-1 patient involvement and the Alpha-1 community as a model in the President’s Precision Medicine Initiative
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Building Friends for a Cure A critical component of the Foundation’s strategic plan is raising awareness of Alpha-1 while providing tools to the community to raise funds to support research. Building Friends for a Cure (BFC) is an Alpha-1 Foundation program that does just that. This program is designed to broaden the reach of the Foundation and promote stronger links between the organization and the community. It provides the platform in which members of the Alpha community can help the Foundation work towards the goal of finding a cure. These events promote community interaction between Alphas, their friends and family, investigators, industry and medical professionals, including Clinical Resource Center physicians and staff.
Accomplishments Some of this year’s activities included three very successful events:
Escape to the Cape - our largest ever bike trek
Celtic Connection
George Washington Bridge Walk
The Building Friends for a Cure program allowed the Foundation to highlight the 20th Anniversary as all invitations, event signage and materials contained anniversary messaging. Golf events and “Get the Scoop” ice cream social events continue to thrive and encourage the Alpha community to stay involved. Walks continue to gain momentum with the addition of two this year. Building on last year’s success, the Foundation plans to conduct another “Virtual Walk” during Alpha-1 Awareness Month this November encouraging our community to get involved no matter where they are. The Virtual Walk was launched at National Conference and continues to gain momentum as monthly trainings are held with Support Group Leaders. Building Friends for a Cure activities allowed for a record of over 4,200 individuals to participate in events and fundraise for the Foundation.
Approach Beginning in January 2017 the Alpha-1 Foundation will hold monthly training seminars via conference call and/or webinar. Volunteers will learn the skills they need in order to organize and run their own fundraising event. The Foundation’s BFC program promotes community engagement and targets areas around Clinical Resource Centers (CRCs) in order to connect the medical community with the Alpha-1 community. This relationship helps to strengthen the CRCs as a local resource. The program generates a substantial amount of publicity in smaller markets that, in turn, creates opportunities to discuss the importance of testing and early diagnosis. In addition, participating Alphas are spokespersons to the media whenever possible and deliver the Alpha-1 awareness and detection message. Page | 14
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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 2016 Celebration of Life was held on Sunday, May 1st and Monday, May 2nd, 2016 at the exclusive Indian Creek Country Club in Miami Beach, Florida. Guests enjoyed the new two-day event format with the dinner reception held on Sunday evening and the annual Golf Classic on Monday. The event gathered industry partners, donors and Alphas from South Florida for an evening of fundraising to support the mission of the Foundation. The event reflected on the outstanding achievements of one community working together towards finding a cure. The Alpha-1 Foundation hosted its Grant Awardees reception during the annual American Thoracic Society’s international conference in San Francisco, California. Over 150 guests, including Alphas, physicians, researchers and industry partners, joined us at the Exploratorium 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.
Approach In the spring of 2017, we will again host the annual Celebration of Life. The event will include both a dinner reception and the Annual Golf Classic in beautiful South Florida. Each year the event has a theme to encourage participation and set an enjoyable atmosphere for guests. Companies that support the event will receive pre and post event coverage, including event listing on the invitation, as well as, signage throughout the event and highlighted in the program book. This year, the Alpha-1 Foundation will introduce a new fundraising event to be held in early 2017. The event will join Alphas, donors and community leaders to generate awareness for Alpha-1 while raising dollars. Page | 16
The Alpha-1 Foundation will also host a reception to be held in conjunction with the American Thoracic Society conference in May. This event allows the Foundation to announce and showcase new grant awardees of our research program. Companies that support our research grant initiatives are also highlighted at this well attended event.
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Public Policy, Advocacy and Access/Reimbursement The Alpha-1 Foundation is fighting for critical Alpha-1 research, advocating for our community and promoting access to care and support at the state and federal level. We work diligently to make Alpha-1 a national priority by speaking out about the needs and rights of people with Alpha-1 and their families. The Foundation addresses the challenges that face our community ranging from diagnosis, treatment, research, cost of care, access to specialists, ensuring reimbursement and more. We have sought to provide policymakers, the public, and the media with sophisticated analysis about the effectiveness of government programs, the costs and benefits of various new approaches to dealing with the challenges facing the Alpha-1 community, and balanced appraisals of the social and economic conditions experienced by Alphas. The Foundation's Public Policy Program advocates on behalf of the Alpha-1 community by monitoring and influencing legislative and regulatory issues. Of primary concern is the stimulation of medical research, the development of new therapies, screening and detection, access to care and treatment, federal and state funding, blood product safety, education, awareness and the recognition of the special needs of individuals with Alpha-1 as implementation of the Affordable Care Act moves forward. These are just some of the ways the Foundation impacts the lives of countless Alphas and their families—and some of the reasons why we are such a respected voice in the public policy arena. This was evident during our participation in the Alpha-1 Patient-Focused Drug Development meeting with the Federal Drug Administration (FDA). The Foundation has continued to champion the rights of Alphas and their families with the ability to shine a spotlight on the disease and escalate the urgency of our cause by advocating for strong, continued investment in healthcare issues, urging members of Congress to prioritize the needs of Alphas and those affected by rare and chronic disease and by collaborating with governmental organizations to influence policy and build momentum for issues affecting Alphas. This includes eliminating barriers to healthcare coverage, ensuring access to essential medications and therapies, raising awareness of patient needs and improving patient outcomes. The Access and Reimbursement Program is a central resource for information on access to care and reimbursement issues for Alphas who require assistance. It includes a Private Health Insurance Toolkit that educates and aids patients and their families in the selection of private insurance and a navigator who educates individuals on the Toolkit, serves as a point of contact for anyone who needs reimbursement or access to care assistance, aids in providing referrals to case management resources and initiates referrals to case management resources within both industry and the Alpha1 community. The toolkit contains sections about patient assistance programs, reimbursement in government programs, managed care basics, billing, coding, prior authorizations, appeals grievances and more.
Accomplishments Below is a snapshot of the Alpha-1 Patient-Focused Drug Development (PFDD) Meeting and followon activities:
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Filled every seat at the venue and had over 600 online participants
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Patient/caretakers represented on 2 panels: “Effects of Alpha-1 That Matter Most” and “Perspectives on Current Treatments”
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Third topic of Clinical Trial Design was added and addressed by Foundation leadership
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Increased impact by developing and reporting on 1,655 responses to a community survery aimed at increasing the Alpha-1 patient voice at the meeting
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Delivered key messages regarding the notable compliance in our community, importance of access to care/treatment, criticality of augmentation therapy and the acceptance of RAPID Trial data, and the continued need for flexible and innovative clinical trial design
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Submitted a follow-on document of several specific policy recommendations related to clinical trial design and other Federal Drug Administration (FDA) policies that affect drug development for our community
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Comprehensively reported the community survey results in a follow-on submission
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The Federal Drug Administration and the Center for Drug Evaluation and Research immediately granted a meeting on Clinical Trial Design in Alpha-1 Liver Disease which convened on December 7, 2015
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Presented alongside the FDA and National Health Council leadership, to 200 advocates at the Everylife Legislative Conference on February 29, 2016 as subject matter experts on patient engagement within the Patient-Focused Drug Development Initiative.
Additional accomplishments in the public policy and advocacy arena include: •
Continuing to engage with the National Health Council and other groups as we weigh in on policy developed around the Affordable Care Act.
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Working with coalition partners to enrich co-sponsorship list for Specialty Tier legislation
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Ensuring continued visibility and examination of competitive bidding legislation for durable medical equipment, namely liquid oxygen
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Participating in the Plasma Protein Therapeutics Association (PPTA) Annual Fly-In on Capitol Hill
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Representing the patient perspective at the American Association for Respiratory Care (AARC) Hill Day
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Representing Alpha-1 on the PPTA Plasma Forum Panel regarding the Orphan Drug Act
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Demonstrating criticality of plasma safety and supply through placement of a senior advocate on the American Plasma Users Coalition (A-PLUS)
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Participating on the Governing Board of COPD Patient-Powered Research Network (PPRN)
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Maintaining Alpha-1 Antitrypsin Deficiency as a rare disease focus of Accelerating Data Value Across a National Community Health Center (ADVANCE) Clinical Data Research Network (CDRN)
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Attending Capitol Hill meetings with the Senate Finance Committee regarding annual pharmaceutical fee exemption for those doing business exclusively in the orphan drug space
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Creating a Patient Assistance Advisory Council to review, advise and foster communication between administrators, funders and the Alpha-1 patient community
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Fielding nearly 300 access and reimbursement line calls to troubleshoot patient assistance and access
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Counseling 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.
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Working to educate the payer community about the harm of restrictive formularies
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Announcing partnership with the National Organization for Rare Disease (NORD) for administration of a patient assistance program
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Taking an active role in the Coalition of Patient Advocacy Groups (CPAG) representing the Alpha-1 perspective and interests associated with the clinical research consortia
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Representing the Alpha-1 Foundation on the Rare Lung Disease Consortium of the Rare Disease Clinical Research Network of the National Center for Advancing Translational Science (NCATS)
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Integrating the Alpha-1 message into the National Heart, Lung and Blood Institute’s (NHLBI) Town Hall Meeting and placement of Alpha-1 advocates into each working group associated with the development of the National COPD Action Plan.
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Fostering critical and record-breaking participation at the September 29th, 2015 Federal Drug administration Patient-Focused Drug Development Meeting in Washington, D.C..
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Approach With focus on maintaining visibility and excellence in Public Policy, the Alpha-1 Foundation contracted with Cavarocchi, Ruscio, Dennis (CRD) Associates and has partnered with them for the last year. Since 1980, CRD Associates has been helping organizations promote and protect their interests in the nation’s capital and will do the same for the Alpha-1 community. A robust strategy for re-engagement and promotion of new engagement of grassroots advocates has been developed. Using this strategy we will tackle the reality of competitive bidding and the resulting profound loss of choice patients have for in-home and ambulatory oxygen provisions. As implementation of phase two of competitive bidding began on July 1, 2016, the Alpha-1 Foundation has partnered with the American Thoracic Society, the COPD Foundation and the organizations of the Rare Lung Disease Consortium to drive a concerted effort. Success will demand a strong grassroots effort and widespread awareness, publication and legislative action behind it. Additionally, the following Public Policy agenda is in place and continues to be strategized with the expert counsel of CRD Associates: Research Issues: Basic and translational research into new therapies to potentially cure Alpha-1 or improve the quality of life for those affected is critical. The Foundation supports legislative and regulatory efforts to ensure Alphas have access to needed therapies, including access to clinical trials. We support the allocation of predictable funding for scientific research and drug development by the federal government and other sources. National Institutes of Health (NIH) •
The Foundation supports the highest attainable funding levels for the NIH and the National Heart, Lung and Blood Institute (NHLBI) specifically to advance scientific progress into research related to Alpha-1.
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The Foundation will continue to advocate for the NHLBI to endorse a treatment algorithm for Alpha-1.
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The NHLBI developed a National Action Plan for COPD and the Foundation will continue to advocate for its implementation.
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The Foundation believes that the NIH’s Precision Medicine Initiative (PMI) holds promise for the treatment and potential cure of Alpha-1 and supports funding for and application of this important initiative.
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The Foundation also supports working with additional institutes that may have expertise that could benefit Alphas, including the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), the National Center for Advancing Translational Sciences (NCATS), and the National Human Genome Research Institute (NHGRI), among others.
Food and Drug Administration (FDA) •
The Foundation will build on the success of the Patient-Focused Drug Development meeting and continue to work with the FDA to ensure that the issues raised by Alphas participating in the meeting are addressed.
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We will continue to work closely with the FDA to identify and utilize biomarkers to develop new therapies and improve the effectiveness of existing therapies.
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With the understanding that a cure can be found for liver affected Alphas, the Foundation will continue to advocate for improved clinical trial design endpoints for liver therapies and the inclusion of children in drug studies for liver treatments.
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Another topic that the Foundation will continue to advocate for is policies to ensure the safest possible blood supply, which would include the creation of the TransfusionTransmissible Infections Monitoring system to protect the end users of blood and blood products.
Department of Defense (DoD) •
We will also investigate and support initiatives related to the care of those Alphas in the military and their families within the Department of Defense healthcare system.
Access Issues: Department of Health and Human Services (DHHS) •
As Alphas continue to navigate the post-Affordable Care Act (ACA) insurance market, the Foundation will continue to ensure that the insurance products available meet the needs of Alphas, providing appropriate coverage and reimbursement for therapies.
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The Foundation will continue to engage with stakeholders to ensure that Alphas who need them have access to third-party patient assistance programs.
Health Resources and Services Administration (HRSA) •
We will continue to monitor the work of the Secretary’s Advisory Committee on Heritable Disorders in Newborns and explore opportunities to have Alpha-1 added to the newborn screening panels.
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It is also important for the Foundation to advocate for the highest possible funding for HRSA’s Department of Transplantation, which administers the Organ Procurement and Transplantation Network (OPTN) and the National Living Donor Assistance Program.
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Our team will work in coalition with other likeminded organizations to encourage liver donation and ensure those in need have access to liver transplants.
Centers for Medicare and Medicaid Services (CMS) •
Alphas require access to liquid oxygen and the Foundation will work with CMS to ensure the appropriate coverage and reimbursement of this required therapy.
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Barriers to the administration of liquid oxygen at home impact many Alphas; therefore, the Foundation will work with CMS to eliminate these barriers and allow Alphas to access liquid oxygen at home.
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The Foundation will work to improve patient access to infusion therapies at home.
Department of Homeland Security/Department of Transportation •
In order to change restrictive policies and regulations regarding liquid oxygen that hamper Alphas’ abilities to travel, the Foundation will engage with the agencies of jurisdiction to modify them or offer alternatives.
Department of Veterans’ Affairs •
The Foundation would like to ensure that the VA is actively engaged in awareness and education activities that will benefit Alphas.
•
Many Alphas receive their health care through the VA, and the Foundation will ensure that they continue to have access to necessary care.
And finally, we remain committed to: •
Embedding the Alpha-1 message through the COPD Foundation and COPD centric appropriations language
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Collaborating with strategic alliances in the rare-disease community to ensure the development and delivery of patient access tools and training
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Lobbying for appropriate participation of the Alpha-1 research community in the Precision Medicine Initiative
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Working closely with our public policy partners and strategic alliances to monitor and respond to Medicare Part B Demo, as appropriate
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Alpha-1 Global The mission of Alpha-1 Global is to develop a collaborative global network of Alpha-1 organizations and patients to increase awareness, detection, and access to care around the world. Alphas worldwide experience many of the same problems; little to no awareness of their condition; long delays in getting the correct diagnosis, all the while experiencing deteriorating health; inadequate clinical care by physicians unfamiliar with the standard of care for lung and liver disease caused by Alpha-1; and, in many cases, limited or no access to augmentation therapy (the only specific therapy for Alpha-1). The various challenges of obtaining the appropriate medical care vary in severity by country. Many countries have already faced these hurdles and have made progress in the areas of awareness, detection, health management, access to therapy and reimbursement. While countries have different governance structures and health care systems that demand a unique approach to advocacy, much can be learned from the experience of Alphas who have faced these same challenges and have won some hard fought battles. Following the 5th Global Patient Congress in Barga, Italy, on April 8-10, 2015, Alpha-1 Global has maintained its focus on continuing to develop avenues in which the global community can collaborate and learn from each other as it pertains to education and access to care. The need for building sustainable organizations to strengthen the Alpha-1 message and reinforce patient advocacy was one of the most popular topics during the Patient Congress. Close relationships across patient, clinician and scientific communities will progress the areas of earlier diagnosis, disease management and the role of patient registries.
Accomplishments New Patient Associations In 2016, four new Alpha-1 Associations were created in the following countries: Poland, Netherlands, Switzerland and Argentina. All groups are focused on building a network of Alpha-1 patients in their countries and to providing education, support and a united voice to promote high quality care at affordable costs. Robert Durlik, Alpha-1 Poland leader, and Carlos Cambon, Alpha-1 Argentina leader, both serve on the 2016-2017 Alpha-1 Global Steering Committee as representatives from their respective regions. Alpha-1 Global Advocacy As we continue to collaborate on increasing awareness, detection and access to care for Alphas around the world, advocacy training remains a high priority on our list. With the RAPID Trial results now available, it is imperative that the results are made relevant in order to further our mission. •
European Advocacy Training On April 27, 2016, Alpha-1 Global conducted an Advocacy Training for European country representatives in Milan, Italy. Each attending country shared their successes and goals and used the training and Toolkit to prepare their strategy throughout 2017. To date, we have professionally translated the Toolkit into six languages: French, German, Italian, Portuguese, Romanian and Spanish. The Toolkits have been distributed and are currently in use and helping to advance our advocacy goals.
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•
Rohde Public Policy Group In 2012, the first “Alpha-1 in the European Union - Expert Recommendations” document was published. Two of the main European institutions (the European Commission and the European Parliament) have changed since 2012, and it is, therefore, necessary to ensure the continuous visibility of Alpha-1 Antitrypsin Deficiency within the European and national institutions. The Expert Recommendations document will be updated to include the RAPID Trial results in order to better advocate patient access to care in the various European countries. It will also serve to support related outreach at a European and national level. Alpha-1 Global has contracted Rohde Public Policy Group in Brussels as experts in this field. A committee consisting of European Alpha-1 physicians, researchers and patients has also been formed to guide the process.
Nordic Pilot The “Nordic Pilot” was created as a direct result of the 2015 Congress. It serves as a prototype for building a strategic collaboration between regional Alpha-1 communities that seek improved access to care in their countries. Alpha-1 leadership from Norway, Denmark and Sweden met on November 20, 2015, in Oslo, Norway to receive Alpha-1 Global Toolkit training and to discuss next steps toward their goals; which includes continued networking within their own countries. In addition, on April 12, 2016, Alpha-1 Denmark conducted a symposium on augmentation therapy for key physicians in Denmark. Several experts from the European Alpha-1 community contributed to this strategic meeting which resulted in close collaboration with the Danish Lung Foundation and the Rare Disease Association in Denmark. As a collaborative effort, Denmark and Sweden are preparing to conduct an in-depth Alpha-1 Questionnaire later this year, similar to the one conducted as part of the Alpha-1 Campaign in the UK. Steen Bengtsson, from The Danish National Centre for Social Science (SFI), has agreed to conduct this project and provide analysis and reporting of the outcomes. SFI conducts independent research on an international level and carries out commissioned projects for Danish ministries, municipalities and organizations. Steen performed an in-depth survey for Rare Disease Denmark and knows Alpha-1 Denmark well. We anticipate this report will bring valuable information to our ongoing efforts in Scandinavia. Latin America On December 4-5, 2015, Alpha-1 Global conducted a Latin American (LATAM) Summit in Buenos Aires, Argentina, which was attended by more than 40 representatives from 9 different countries. Patient representatives from the following countries expressed excitement and interest to work together in Latin America: Chile, Panama, Costa Rica, Uruguay, Venezuela, Ecuador, Colombia, Argentina and Brazil. Dr. Alejandra Rey, M.D., a pulmonologist from Montevideo, Uruguay, who was one of the organizers of the LATAM Summit, is spearheading a working group of ALAT (Latin American Thoracic Society) physicians to develop Standards of Care for Alpha-1 in Latin America. The group is developing a document containing important regional information and incorporating new tools to Page | 25
improving knowledge, effectiveness, efficiency and safety in the diagnosis and treatment of patients with Alpha-1 Antitrypsin Deficiency. Alpha-1 Global is sponsoring the project. Alpha-1 Global Website As we continue to develop a collaborative global network of Alpha-1 organizations, patients and stakeholders, we remain sensitive to the fact that we are establishing relationships with individuals who speak limited or no English. As a result, we aim to create a user friendly website by using less text and emphasizing a simplified user navigation concept. This will engage our audience more effectively, increase access to electronic tools and collateral, and show intentionality in establishing international relations. The updated website will be made available with static pages translated into 5 primary languages: English, French, German, Portuguese and Spanish. Special language software detects the user’s browser language setting and will auto-switch to the appropriate one. If a user’s language is not supported by this software, the Google Translate snippet will automatically load and translate the content, or the user can select a different language. We expect to publish the new website in midOctober. Alpha-1 Global will also provide on-line training webinars, host virtual meetings, and evaluate how best to utilize the latest translation software options for live and written needs within the global Alpha-1 community; especially for communication within Latin America. e-Newsletter The Alpha-1 Global e-Newsletter continues to provide important and relevant news and updates for the international Alpha community, as well as expanding our database. The e-Newsletter links to our website as well as our newly launched social media platforms. An archive of past e-Newsletter issues can be found here: http://ow.ly/8Uxa303ZFIL. Social Media Strategy On August 29th, Alpha-1 Global launched our Social Media efforts with Facebook, YouTube and Twitter; an official announcement was released with the September issue of the e-Newsletter. Our goal is to create a cohesive and dynamic social media presence to advance international conversation, awareness and community, and to garner attention for the upcoming Patient Congress in 2017. Facebook and Twitter will become the primary communication tools and YouTube will be used to repost webinars and other recorded events. 6th Alpha-1 Patient Congress & 3rd Biennial International Research Conference The 6th Alpha-1 Global Patient Congress and 3rd Research Conference on Alpha-1 Antitrypsin are scheduled to take place on April 5-8, 2017, at the InterContinental Hotel, in Lisbon, Portugal. A dynamic program is being designed to provide a platform for education, discussion and training to further the mission of Alpha-1 around the world. Alpha-1 awareness is still the most pressing need for the international Alpha-1 community. Early detection and access to improved care, especially augmentation therapy, continue to be top priorities, followed by the need to support patient registries and share useful resources within the global community.
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We expect to draw 200 people from more than 30 countries and are actively promoting event attendance within the global Alpha-1 community. Event registration will open in mid-October. Alpha-1 Global Steering Committee The following individuals are serving on the 2016-2017 Alpha-1 Global Steering Committee. We are grateful for the leadership and service of each member.
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Patient Support Network The Alpha-1 Foundation’s network of volunteer led support groups continues to be a substantial resource for our community. It is comprised of 81 affiliated Support Groups throughout the country. They are dedicated to providing support, education and information and are led by devoted volunteers, most Alphas themselves, who are committed to helping individuals affected by Alpha-1 improve their quality of life. These groups help to foster an enhanced, healthier sense of personal identity and a connection with the larger Alpha-1 Community as well as extend the Alpha-1 Foundation’s mission to local communities. Support Group Leaders (SGLs) receive education and training throughout the year to maintain consistency among each group. This allows each participant access to the same level of support, education and other services available to Alphas and their families. Each Leader abides by guidelines that are reviewed annually and shared with industry. This year, the Foundation is pleased to have filled leadership positions in New Jersey, California, Arkansas, Louisiana, Tennessee, Arizona and Florida.
Each support group meeting must have an educational component and that often requires a speaker. In an effort to ease the burden on the leader to secure an expert, the Foundation has prepared a virtual meeting toolkit. A major component of this toolkit is the content of our eeducation library. The recordings of Alpha-1 experts continue to provide SGLs with quality presentations that allow them to hold effective and educational meetings without the need for a speaker at the venue. A new presentation was developed for Leaders to present to their groups entitled, ‘The Role of the Foundation in the Alpha-1 Community’. Alphas all over the country are updated on current programs, support and educational opportunities offered by the Foundation. Many members of the Alpha-1 community, whether due to demographic or physical limitations, do not have the ability to attend support group meetings. Support is a key component to well-being and the Foundation strives to ensure access to Alphas, friends, family and experts regardless of an individual’s limitations. Virtual Support Groups help to provide that support community wide. The four Virtual Support Groups consist of Pre & Post Transplant, Timely Topics, Alpha-1 Families and Page | 28
Caregivers. These groups meet by conference call on a quarterly or bi-monthly basis and highlight speakers in specific areas. The Caregivers Virtual Support Group includes open forums about their experiences, to share advice, how to make important legal decisions and keeping a health care journal. The Pre & Post Transplant Virtual Support Group discusses how to prepare for transplant and what do when one gets the call. The Timely Topics Virtual Support Group is open to everyone in the community, especially those who do not have access to a local support group. This group has covered several different topics such as Traveling with Oxygen, Access and Reimbursement and Patient Assistance for Copays and Premiums. The Patient Information Line is a main resource for newly diagnosed patients, Alphas and family members to gain access to information and referrals to resources. Referrals are made based on each caller’s needs. Referrals and resources regularly include information about the local Support Group, Peer Guide Program, Clinical Resource Centers, testing options and the Research Registry. The Genetic Counseling Program is also discussed as a resource for the individual as well as other family members who may have questions regarding the genetics of Alpha-1. Through the Support Group Meeting Fund, SGLs obtain financial support for their meeting expenses. An educational portion of the meeting and other guidelines are evaluated in the grant requests for this funding. Many of the Support Groups do not have access to physicians, health care professionals and others with Alpha-1 expertise in their communities. Through the Support Group Meeting Fund, Support Group Leaders are able to organize meetings that otherwise might not be possible, bring in speakers with an expertise in Alpha-1 and other pertinent subjects that affect an Alpha’s daily life. This fund will also be used to hold special meetings and events that will build a sense of community within the region. All will utilize the support group membership and guidelines to maintain the important educational components and the privacy that the support group structure demands.
Accomplishments This past year the Support Network: •
Served more than 5,000 patients and family members
•
Consisted of 81 support groups located throughout the United States and was led by 110 Support Group Leaders and Co-Leaders
•
Formed 8 new groups and had their first meetings in the states of Arkansas, California, Georgia, Louisiana, New Jersey and Texas
•
Acquired 15 potential new Support Group Leaders who are currently in the process of being vetted, are in the training pipeline and/or waiting to have their first meeting. This will result in 5 new groups in Alabama, Georgia, Florida, Michigan, and Idaho and 7 existing groups with 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
•
Conducted SGL Training at the New Orleans Education Day, which included 11 new and veteran Leaders in attendance
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•
Trained new leaders using the 7 modules that are now part of the required training for each SGL and all new SGLs: o “Research Registry, Clinical Trials and Latest Research Update” by Charlie Strange, MD o “What is a Carrier” by Robert A. (Sandy) Sandhaus, MD o 3 Orientation webinars including an Alpha 101 o 2 Screening & Testing webinars
•
Organized 9 Leadership calls that take place annually: o An educational component from a subject matter update o A Building Friends for a Cure update and opportunity o Foundation Leadership report o Information on current initiatives and processes to engage support group leaders and members to move the mission forward o Advocacy update
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Conducted a day-long Support Group Leader Training held in Miami, FL immediately following the National Education Conference: o 56 Leaders and Co-Leaders were in attendance o The Ed Brailey Lectureship Hour was presented by Dell Witcher, of the Alpha-1 Foundation Board of Directors, encompassing both lecture and Support Group Leader participation
•
Performed face-to-face Support Group Training prior to Education Days: o
New Orleans Education Day – “Establishing and Running a Support Group” The training session was also delivered virtually to new support group leaders in the network.
•
Organized 113 experts to present at the FY2016 support group meetings. Most presented from the meeting venue, but we have implemented the use of technology to allow experts to virtually provide valuable information to the support group attendees. For example, Dr. Jeffrey Teckman participated on many occasions to discuss liver disease and the current state of liver research via SKYPE.
•
Arranged for Support Group Leaders to speak at 18 Plasma Collection Centers to staff and donors in Utah, California, Wisconsin, South Dakota, Virginia, Louisiana, Kentucky, Texas, Arizona, Illinois, Indiana, North Carolina, and Oregon
•
Prepared SGLs to staff 13 National Association for Continuing Education (NACE) Conference exhibits in Texas, Virginia, Georgia, Tennessee, Missouri, North and South Carolina, Arizona, California, Louisiana and Ohio. Several of these Leaders told their story to the audience of primary care physicians, nurse practitioners and physician assistants
•
Arranged for a Virginia SGL to represent Alpha-1 on behalf of the National Organization for Rare Disease (NORD) at the American Medical Students Association
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•
Emphasized the benefits of SGLs to make Plasma Center Tours available to their groups where possible. Many Leaders have facilitated these ‘field trips’ for their groups with the assistance of their local representatives.
As the Patient-Focused Drug Development meeting warranted a survey to increase our community’s voice to the Food and Drug Administration (FDA), questions related to program satisfaction were included in the survey and responses provided significant data for driving new programs. •
1,655 caregivers, parents and patients responded o Over 14% of the respondents were caregivers o
The use of non-clinical treatments across all cohorts was fairly similar, ranging from 62.8% to 64.4%. In each, participation in an Alpha-1 Support Group was the most used non-clinical treatment. In the Parent-reported liver cohort, the use of Support Groups jumps to 80.0%
o
71% of all respondents self-disclosed that they/or their family members experience anxiety and/or depression due to Alpha-1
Approach The Foundation will continue to support the continued growth and vitality of the Patient Support Network and enhance its resources toward improving the quality of life for individuals and their families affected by Alpha-1 through access to support, education and resources regardless of their location. The 2017 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. This provides those that cannot attend educational events the opportunity to learn from experts in the field of Alpha-1.
•
A major upgrade in the training and mentoring of Support Group Leaders will continue in order to empower them in their roles and expand the reach of the Support Network to benefit the Alpha-1 Community. Training events will be developed and added to various Education Day agendas and select support group leaders will be invited to participate, as appropriate per topic. Additionally, program and opportunity related trainings will be virtually delivered to the support group leaders and community members, as appropriate. The training will both build and utilize the skill sets of the individuals invited and be based on their level of subject matter expertise. Training will be aligned with initiatives in the community and may fall under the umbrellas of development, advocacy, access and reimbursement, detection, CRC liaison readiness, etc. We will implement a training program that best facilitates program growth and impact. We will develop and deliver the virtual training on a platform that will allow the sessions to be archived and referenced by others.
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•
General topics relevant to all levels of SGLs will be presented at the National Education Conference training program and in a format that engages the leaders and fosters participation throughout the session.
•
Measurements and metrics associated with the training will be collected to indicate behavioral change brought on by the training.
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The Foundation will continue to bring expert delivered, educational components to the meetings. As a key endeavor, we will foster the participation of Clinical Resource Center (CRC) physicians in the community support network in accordance with the new CRC criteria.
•
The Foundation will continue to utilize and promote Virtual Support Groups (VSG). The topics of the VSG have previously been Pre & Post Transplant, Timely Topics, Alpha-1 Families and Caregivers and were delivered at varying intervals. In response to the survey data, we will partner with subject matter experts in Caregiving and in Anxiety and Depression and use an updated VSG platform and relevant materials to deliver an interactive series on both Caregiving and on anxiety and depression. o We will follow-up the series with queries into the readiness the participants feel they gained in order to deal with being a caregiver and/or their ability to successful manage anxiety and depression.
•
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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•
There will be an increased participation at the National Conference via livestreaming with the support groups throughout the United States. All groups will be encouraged to hold a support group meeting on Saturday, June 24th, connecting and participating in the educational sessions at the 2017 National Conference. Technology requirements will be assessed and assistance provided to the groups in advance. A team of support group leaders will be appointed to trouble shoot with individual groups to ensure smooth connections to the livestreaming.
•
The Foundation will work with subject matter experts in both the caregiving and anxiety/depression arenas to begin development of tools and support mechanisms that will address the significant need for such services.
Educational Scholarships Each year the Alpha-1 Foundation provides educational scholarships to Alphas or their immediate family members who have been accepted to study at an approved institution such as an accredited university, community college or technical institute. It is designed to assist those in need to further their post high-school education. This year, 7 Educational Scholarships were awarded to deserving individuals. One such scholarship is the John (Jack) W. Walsh Scholarship award established in 2010. Jack Walsh, father to John Walsh IV, Fred Walsh, Judith Walsh and Susan Ferro, was a friend and mentor to hundreds of Alphas and a patriarch of the Alpha-1 Community. One of the scholarship applicants this year was Catriona Garry. Catriona received a liver transplant as a child. At the 2016 National Conference, Catriona participated by sharing her story to parents in attendance. As a college student, she traveled to Miami this year by herself with the goal of helping in whatever capacity she could to create awareness of Alpha-1. Parents from all over the country were encouraged about their own child’s Alpha journey by listening to Catriona share her story. Catriona parents have been long-time supporters of the Alpha-1 Foundation. And now, Catriona is dedicated to supporting the Alpha-1 Foundation and the Alpha-1 Community. She submitted an excellent essay about how Alpha-1 has affected her life. Her essay and her involvement in the Alpha-1 Community resulted in Catriona Garry from Massachusetts being awarded the John (Jack) W. Walsh Scholarship award. Emergency Relief Fund The Emergency Relief Fund provides financial relief to Alphas and families in need. This fund has helped 28 families this year. It has assisted those facing financial stress and those who are unable to pay for basic and urgent needs such as utilities, home disasters or expenses to travel to a transplant center. Financial assistance is provided based on need with a maximum of $500 for each individual. New guidelines limit an individual to a single request per person and stipulate that funds cannot be used for premium or co-payment assistance. Funding for emergencies is critical for our community. Many Alphas are forced to quit work because of their failing health and many are living on a fixed income of social security only. The program and need has become so significant, that that Alpha-1
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Foundation has contracted with the National Organization for Rare Diseases (NORD) to administer the program and fund requests based on agreed upon criteria. 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 41 supplemental oxygen systems to support our community’s needs. Seventeen systems were used to allow patients to attend education days, 7 were stationary units for home use, 4 systems were delivered to AlphaNet Coordinators for support and multiple packages of concentrator batteries were provided to allow Alphas a longer period away from home and for travel.
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National Education Series The Alpha-1 National Education Series is comprised of six one-day patient educational programs which provide access to current medical information and resources for Alphas, their families and caregivers. A patient dinner or event is held in conjunction with each day 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 conjunction with a Clinical Resource Center (CRC) or in a specific underserved geographical area. Local Support Groups and Patient Advocates are engaged in the regional planning committees of each Education Day. The Education Days have been approved by the American Association for Respiratory Care (AARC) for six hours of Continuing Respiratory Care Education and the Foundation works with the AARC to invite local respiratory therapists to attend and to provide recommendations for speakers as well.
Accomplishments The 2016 Education Series included: •
A total of six (6) Education Days: o o o o o o
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Phoenix, AZ – February 20th New Orleans, LA – March 19th Louisville, KY – April 30th Denver, CO – August 6th Pittsburgh, PA – September 10th Charleston, SC – October 29th
•
So far, a total of 463 individuals have attended the first four Education Days, including 170 first-time attendees and 15 respiratory therapists. 135 registered for PA Ed Day
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12 patients were provided with travel assistance for the first four Education Days
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The program agendas have been adaptive to the patients served and often incorporate unique topics related to specific areas. As an example, in Phoenix our experts discussed Valley Fever and the risk to the Alpha-1 patient.
•
The success of the Alpha-1 Foundation’s efforts at the FDA’s Patient-Focused Drug Development meeting is covered at Education Days as an introduction to our advocacy efforts and to help promote grassroots activities
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A Genetic Counseling CEU program was initiated and posted on the National Society of Genetic Counsellors website. The program will be utilized based on the saturation of genetic counsellors in the vicinity of the Education Day
•
The Orlando Education Day garnered incredible participation with over 220 attendees. The Support Group Leaders played key roles in running the event and the participants kicked off the first Building Friends for a Cure Virtual Walk
Approach The Foundation remains dedicated to educating Alphas, their families, healthcare professionals and others about Alpha-1 Antitrypsin Deficiency. Educational programs allow patients to interact with one another and gain valuable information from Alpha-1 experts on pertinent health information and the latest research. •
The following cities have been selected to host Education Days in the remainder of the 2016 calendar year: o o
•
Six cities and dates have been chosen to host Alpha-1 Education Days in the 2017 calendar year. o o o o o o
•
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Pittsburgh, PA – September 10th Charleston, SC – October 29th
San Francisco, CA – February 25th Austin, TX – March 25th New Jersey/New York City – April 29th or May 6th Boston, MA – August TBD Boise, ID – September 30th Atlanta, GA – October 21st
The Foundation will continue to work closely with the AARC to ensure that respiratory therapists in the region are invited to attend the Education Days, to provide six hours of Continuing Respiratory Care Education to all who attend the programs, and to request recommendations for speakers at the events.
•
In order to offer education throughout the country, regardless of income, the Foundation will provide up to 8 travel stipends to patients at each educational program to encourage attendance and offer assistance to those in financial need.
•
As part of Community Engagement, Clinical Resource Centers (CRCs) will continue to be an integral part of Education Days as lead facilitators and speakers.
•
The Alpha-1 Foundation will continue to add a first-time attendee session to Education Days to ensure that this audience has an opportunity to meet local community leaders.
•
The Alpha-1 Foundation will continue to expand on the success of the Building Friends for a Cure program by holding events in conjunction with Education Days and encouraging the participation of local support groups, attendees and CRCs in the area. Building Friends for Cure events will be held at the Denver and Charleston Alpha-1 Education Days.
•
Qualified subject matter experts will host roundtable discussions on a variety of topics including caregiving, oxygen, access and reimbursement and transplant, thus providing small group discussions on the subject outside of the general session.
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National Education Conference The Alpha-1 National Education Conference is the largest gathering of Alphas and their families in the country. This conference provides an arena for Alphas to network with each other, become motivated to take charge of their health, become involved in a local Support Group, take part in awareness and outreach activities, participate in a fundraiser or get involved in advocacy. It also provides industry an opportunity to interact with patients directly regarding their products and services and to convey their commitment to the Alpha-1 community. Most importantly, the event garners Alpha-1 Specialists, new and old, to bring incredible subject matter expertise, education, tips and tools to the community. The attendance has grown over the years to more than 550 attendees on average.
Accomplishments The 25th Annual Alpha-1 National Education Conference was held in Miami, FL on June 24-26th, 2016. This was the first conference held in Miami, the home town of the Alpha-1 Foundation. There were 610 people in attendance which included 185 Alphas or family members attending for the first-time. Every member of the Alpha-1 Foundation staff, each Board member present, over 50 Support Group Leaders and 50 AlphaNet Coordinators took an active role at the conference and were an available resource to the attendees. Along with Alpha-1 Lung and Liver 101 sessions, a Community Engagement forum kicked off the conference. The forum provided a platform for attendees to interact and learn about Foundation programs and ways they could become involved. Volunteer leadership and staff shared examples of
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the programs’ benefits and how easy and important it is to become involved in the Alpha-1 community. Engagement was the goal of the conference and was the driving principle of the theme, “Without You, There is No Solution”. •
Henry Moehring opened the general session with his own personal story and how his personal engagement with the Foundation aided his health management and ultimately led him on the path to become the current President and CEO.
•
The Foundation booth, staffed with Foundation personnel, Support Group Leaders and board members, followed the theme with a quiz for the attendees to determine their “Alpha-1 personality.” Over 250 attendees took the quiz and were partnered with a Foundation staff member as they were educated about activities that mirrored their “personality” outcome: advocacy, support, fundraising or research.
•
A Family Reunion booth used the visual of a family tree to discuss the importance of testing and how important it is to talk to family members about Alpha-1.
•
A caregiver focus group was held as an initial step to creating a Caregivers’ Wellness and Support Series. Pre-conference invitations were sent to all who registered as caregivers including parents from the 18 Alpha-1 Kid families attending. The group consisted of over 40 individuals and was facilitated by caregiving expert, Jane Meier Hamilton, MSN RN, Founder of Partners on the Path.
•
An added benefit of having leading Alpha-1 experts and physicians in one place is the opportunity for them to meet with patients who wouldn’t have access to them on a regular basis. A Meet the Experts program was hosted on Friday afternoon. Six leading physicians and our Alpha-1 genetic counsellor met with patients and provided them with expert advice on how to manage their Alpha-1. A pediatric liver specialist also joined over a dozen Alpha-1 Kids families at a parents’ meet and greet and answered questions, in both English and Spanish.
•
Increasing reach into the Alpha-1 community is a key goal of the Alpha-1 Foundation. Only a small portion of the Alpha-1 community is able to attend educational conferences. Many are unable to travel due to illness, disability and financial reasons. This year, greater efforts were made to increase the reach of the National Education Conference and ensure that the community members who are unable to attend were still able to participate and share the experience.
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•
•
We increased both social media integration and enhanced the coverage of the conference by increasing the scope of our Livestream and webcast feed of the conference sessions. By creating and implementing a strategy to increase remote participation, we were able to deliver sessions of the conference to additional participants from across the globe. 2,076 individuals watched the sessions real time via the Livestream coverage of the general session and an afternoon track; 20 times the amount of viewers than last year. The views have continued to increase in the weeks following the conference with over 700 new views in the first 10 days post conference. Viewers were from 64 various countries including these top five: o o o o o
•
An additional 270 individuals listened to the sessions and viewed the presenters’ slides via webcast. Viewers were from the following 7 countries: o o o o o o o
•
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United States (83.3%) United Kingdom (5.2%) Canada (2%) Portugal (.94%) Brazil (.81%)
United States (259) Germany (3) Argentina (3) Belgium (2) Netherlands (1) Hong Kong (1) Mauritius (1)
The social media campaign surrounding the conference contributed greatly to engaging the Alpha-1 community members who were not able to join us in Miami. In fact, we reached over 13,000 people on June 25th via Facebook alone, with nearly 700 unique reactions to our posts. This was a 300% increase in social media engagement over the weeks prior.
Comments from the online viewers paint the picture of how appreciated this live feed was to the remote attendees.
“YAYYYYY, this makes me
so happy!!! Thank you đ&#x;’œâ€? “It was so exciting to ‘virtually’ attend the Alpha-1 Conference. I learned so much and was able to put faces to names I've heard or read about. Thank you to the technical crew, event planners, etc., for making this possible!â€?
The 25th Annual Alpha-1 National Education Conference met the needs of the community and garnered some of the most positive feedback to date. The following comment by a patient perfectly captures this incredible feedback:
"This was the highlight of my life. Getting to go to the conference and be a part of it….learning…. I so look forward to getting involved.” Approach Plans are underway for the 2017 Alpha-1 National Education Conference. Chicago has been chosen as the location for the 26th Annual Conference. Again, increased reach will be of paramount importance and analysis of remote participation at the Miami conference will be a key driver for the determination of programs implemented at the 2017 event. Great efforts are being made to increase participation in the National Education Conference and ensure that the community members who are unable to attend are still able to take part and share the experience. We plan to increase both social media integration and enhance the coverage of the conference with a larger scope of our Livestream feed by creating a robust strategy to increase online participation. The Alpha-1 Foundation will facilitate remote viewing of the conference across the nation and will solicit participation through support groups and the Clinical Resource Center network. The National Education Conference will again provide a community engagement forum for attendees to interact and learn about Foundation programs that they can become involved in, including research, fundraising, and support. Several 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 questions. The Chicago location has potential to attract the largest attendance at a National Education Conference to date. Contract management and demographic studies have been conducted and actions are being taken to accommodate the potential attendance and related expenses of the larger venue. All efforts will be made to solicit, manage and diversify the revenue stream necessary to serve our unique, growing and engaged community.
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Alpha-1 Kids & Young Adults When a child is diagnosed with a rare condition, it can be devastating to a family. The Alpha-1 Foundation aims to assist these families with targeted information to ease their initial anxiety. The Alpha-1 Kids program provides information to parents of Alpha-1 infants, children, and teens about their child’s diagnosis and provides support, information and data about its impact. An Alpha-1 Kids committee, comprised of parents of Alpha-1 affected children, oversees the programs and services. It is also responsible for assessing the needs of the Alpha-1 Kids families, and recommending new programs and resources. A grant entitled, the Robert Seigman Memorial Scholarship, is for newly diagnosed and returning families to attend the National Education Conference and is distributed to families every year. The Foundation acknowledges the unique needs that young adults affected by Alpha-1 have and realize they require support as they transition from their parents’ care and into independent adults. An appropriate program to meet those needs is underway and being led by a technology savvy staff member and key young adult participants. Included are community members who are long time participants and some who are new to the Alpha-1 community.
Accomplishments Through the Alpha-1 Kids program, the following was provided: •
The Robert Seigman Memorial Scholarship provided 6 full scholarships for families to attend the National Education Conference and hosted 17 children in the Alpha-1 Kids room. Three additional families were provided with assistance for travel and/or registration related costs for the 2016 National Education Conference
•
An Alpha-1 Kids and Teen program at the National Education Conference that included rooms for Alpha-1 Kids to gather, a parent mentoring and meet and greet session conducive to sharing valuable information through discussions, networking, counsel and support
•
Alpha-1 Kids booklets have been distributed at Education Days, the National Conference and through fulfillment requests. These publications are being reviewed by the Educational Materials Working Group, but thus far this year, a total of 123 copies have been ordered via website requests: o o
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A to ZZ Booklet (58) Kids Guide to Alpha-1 (55)
o •
Teenagers Guide (10)
A series of bi-monthly meetings for the Alpha-1 Families Virtual Support Group that specifically targets parents with information relevant to their needs: o
It is the largest Virtual Group with 402 members.
o
This group was invited to participate in 7 meetings to address issues suggested by the parent committee and/or suggested from surveys of parents Topics this year included: • • • • • • •
Liver Research Update – Jeffrey Teckman, MD Research Registry & Clinical Trials Update – Charlie Strange, MD Peer Guide Experiences – Parent Peer Guides and moderated by Cathey Horsak, Director of Community Programs Questions & Answers Session – Experienced Parents Genetics and the Role of the Caregiver – Kim Brown, Certified Genetic Counselor, Alpha-1 Foundation Pediatric Lung Issues – Charlie Strange, MD State of the Union Address – Robert Sandhaus, MD
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: •
Continuing to support the Robert Seigman Scholarship Program for travel and registration expenses for the National Education Conference for newly diagnosed and returning families, and continue the Alpha-1 Kids and Teen program at the National Education Conference
•
Conducting the Alpha-1 Families Virtual Support Group on a bi-monthly basis providing relevant news, topics and support to families affected by Alpha-1
Young adults in our community have unique needs that span from disease management, life and career planning and being caretakers for a parent affected by Alpha-1. Gaps between current and desired programs needed for young adults have been identified and the determination of the most effective programs and/or tools to address those gaps is underway. To initiate these efforts, a Young Adult Group has been organized to garner greater input about the service gaps, prioritize related projects and strategize on an implementation plan.
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National Awareness Raising awareness has always been at the heart of everything we do at the Foundation. It has long been our belief that awareness is vital to the early and proper diagnosis of Alpha-1 which, in turn, leads to improved approaches to care. An integral part of the Foundation’s mission is to increase awareness and detection of Alpha-1. We aim to accomplish this through many avenues. We can make an impact by offering volunteers the tools and resources needed to create awareness in their hometown, to educate their families, physicians, nurses and other healthcare professionals. Through awareness and outreach, we can identify new patients and provide them the vital support necessary to deal with the impact of this genetic condition.
Accomplishments To mark our 20th Anniversary, we entered the year with a goal to portray the commitment, vision and accomplishments of the leaders and organization over the past 20 years, communicate the vision and road map for the future and inspire the community to take the future into their own hands. With the tagline 20 years of Making a Difference, we launched a media campaign that highlighted community members and leadership that have led us through the past 20 years. We acknowledged donors, fundraisers, advocates, support group leaders, Alphas in research, etc. and ended each spotlight with a roadmap on next steps and how to become involved. We developed and launched, “The Alpha-1 Story”, a short documentary profiling three families affected by Alpha-1 Antitrypsin Deficiency that details their paths to diagnosis. To date, the piece has been viewed by nearly 4,000 individuals and a truncated version has reached another 7,500. In each instance, viewers were pointed to our website for more information on Alpha-1. Alpha-1 community members joined the Foundation in raising awareness for Alpha-1 on Rare Disease Day, February 29th. In fact, Alpha-1 was the highlighted rare disease at Parkview Hospital, a not-for-profit, community-based health system serving northeast Indiana and northwest Ohio, for their program as the chosen state ambassadors for rare disease. The day had three components, beginning with a trip to the state legislators to discuss Alpha-1 and rare disease, to having our Board member, Tom Corron, provide his patient story and culminating with a continuing education course on Alpha-1 delivered by Dr. Robert Sandhaus. Over 300 medical professionals and patients filled the room. Alpha-1 patient representatives also played a huge role at the NHLBI’s COPD Action Plan meeting. With Alpha-1 representatives in every working group, our community ensured that Alpha-1 detection and targeted testing in the COPD community remained a critical component of the plan. Follow up review of the documented plan is underway and Alpha-1 is at the forefront. Our community’s successes were used as a model at Everylife’s Rare Disease Day advocacy training. With an audience of over 200 rare disease advocates, both experienced and new, the details of the Alpha-1 community’s efforts and Foundation’s guidance in the FDA’s Patient-Focused Drug Development meeting provided the incredible opportunity to highlight the passion, commitment, needs and goals of our patients and organization.
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For Alpha-1 Awareness month in November, the Alpha-1 Foundation readied our community to spread awareness far and wide. Support group leaders from across the nation met with their legislators to discuss Alpha-1 and request that November be proclaimed as “Alpha-1 Awareness Month” in their respective states. Twenty nine proclamations were secured with a special case in Ohio. New support group leader Ann Dissinger and AlphaNet Coordinator Jesse Strickland worked with Ohio’s state representative Dr. Terry Johnson to push House Bill 29 to designate November as "Alpha-1 Antitrypsin Deficiency Awareness Month" through the legislative process. The bill was first presented HB 29 to the House and Aging committee and it was passed unanimously and was sent on to the state House of Representatives on the same day and there too was passed unanimously. From there, HB 29 was sent to the state senate Health and Aging committee. There HB 29 was also unanimously passed. It was ultimately voted on by the State Senate, passed unanimously and finally signed into law by Governor Kasich. The Support Group leaders were also the conduits for providing awareness materials across the nation. Each leader was provided with and distributed “Ask me About Alpha-1” buttons and fast fact cards to their group members. With tips and tools in hand, Alphas, friends and families distributed the materials to healthcare professionals and used the opportunities to tell their stories and detail the importance of early detection and family testing. The Alpha-1 Foundation was recognized at the December 19, 2016 NBA Miami HEAT game as the non-profit of the night. The game helped raise awareness for Alpha-1 Antitrypsin Deficiency before thousands of fans at the American Airlines Arena. Staff members of the Foundation, wearing purple Alpha-1 Awareness t-shirts, made their way to center court during the pre-game announcement. The front of each shirt said, “Are you 1?” and directed fans to an awareness webpage. The social media impact was extensive. The Miami HEAT tweeted the awareness photo below to its 3.5 million fans worldwide. There were 4,501 impressions made from the team’s post. On Facebook, 2,851 people were reached and 121 shares were made. The Miami Herald printed an awareness piece on the game in the Social Album reaching all of South Florida Sunday subscribers. The article was posted on Facebook and reached another 3,789 individuals and was shared 21 times.
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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. Support Group Leaders will continue to be encouraged to participate in respiratory events either as speakers or as an exhibitor and arrange for Alpha-1 physicians to speak as possible. Their efforts will also be shared on social media and E-Newsletters to encourage participation and maximize visibility. A fully customizable Alpha-1 Awareness toolkit will be made available to the community for distribution. This kit is adaptable by audience and used to prepare individuals to speak at various venues and events. The Foundation continues our leadership at the American Thoracic Society (ATS) with a staff member on the ATS Public Advisory Roundtable (PAR). As a PAR member, the Alpha-1 Foundation and Alpha-1 will be showcased during an awareness week. A dedicated webpage on the ATS website will highlight Alpha-1 for the entire week. The awareness week will end with a live event on Alpha-1 that will be a globally broadcasted webinar. The Foundation will work closely to develop the content for the webpage and the live event. The Foundation will also solicit our Alpha-1 experts to participate in a Meet the Experts session at the ATS International Conference in 2017. The Alpha-1 Foundation and community are also represented on the Rare Lung Disease Consortium and will take a leadership role at a related conference in the fall of 2016. The conference will represent multiple rare lung diseases and the 3-day agenda will target patients, healthcare providers, industry and investigators. In a newly invigorated relationship, the American Liver Foundation will be posting the Alpha-1 support group meeting calendar on their regional websites. This is a valuable opportunity to engage Alpha-1 liver patients and ensure they have visibility of the resources at the Foundation, knowledge of our family testing programs and a path into valuable programs like REACH at AlphaNet. It is also a partnership we plan to utilize in an effort to bring further awareness of Alpha-1 to the associated healthcare professionals. We will continue to collaborate with strategic alliances we share common goals and target audiences with. As in 2016, Alpha-1 patient-representatives will work closely with the American Association of Respiratory Care (AARC), the American Thoracic Society (ATS), local health fairs and the American Lung Association (ALA) to bring Alpha-1 awareness to the professional and patient audiences at their events. Alphas will be present to distribute literature and resources and we will continue to request opportunities to present their patient story, discuss detection and family testing and create valuable awareness by providing breakout sessions on Alpha-1 at these events.
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Genetic Counseling Program The Alpha-1 diagnosis is often delivered remotely or by a healthcare provider who has less than expert knowledge about Alpha-1. With detection efforts and resulting diagnoses increasing, it is vital that the newly diagnosed, their family members and their healthcare team understand the results and what it means to both the patient and other family members. The Alpha-1 Genetic Counseling Program provides that understanding and education. It is a free telephone-based genetic counseling program for patients, family members, and healthcare professionals. The program operates under the direction of Dr. Charlie Strange at the Medical University of South Carolina and Kimberly Brown, is the program’s Certified Genetic Counselor, responsible for the full scope of activities of the program which includes to: • • • • • • • • •
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 Promote informed choices and lifestyle changes for adaptation to the risk of the condition and reviews available options with the family Aid healthcare providers with interpretation of test results and provide additional information about Alpha-1 Provide advice and counsel to medical professionals regarding how to discuss the effects Alpha-1 may have on patients
As part of the program’s outreach and education, our Genetic Counselor also makes presentations to Support Groups, at Alpha-1 educational programs, Virtual Support Group calls, and webinars. Topics include: Testing for Alpha-1, Importance of Family Testing, Family Planning, Coping Positively with an Alpha-1 Diagnosis, Alpha-1 Teens and Peer Pressure, and Issues for the Alpha-1 Young Adult. Since its inception in 2007, the Genetic Counseling Program has grown to become an important resource in the Alpha-1 community and has assisted about 5,000 individuals in understanding their complex diagnosis and provided the psychological, medical and familial support and educational information.
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Accomplishments The utilization of the Genetic Counseling Program continues to increase. The third quarter of fiscal year 2016 realized the highest volume of new callers since program inception and a 32% increase over 2015. With 246 new callers, the rate is nearly 20% higher than the next highest quarterly call volume and 230% higher than the first quarter of the program. A total of 812 new calls were taken this year with an additional 120 follow-up calls and 129 emails. •
The top caller categories included: o o o o
•
29% from healthcare professionals 24% from carriers 19% from family members 13% from severely deficient individuals
The top reasons for the initial calls were: o o o
Results, questions about clinical visits, other (33%) Explanation of test results (26%) Testing options (16%)
•
The top referral sources to the program continue to be test results, the Alpha-1 Coded Testing (ACT) Study, and the Foundation
•
The Genetic Counselor directed 192 individuals to the Foundation for additional resources.
•
Not only did the Genetic Counselor provide expertise via telephone consultations, but she also participated and presented at Foundation events, including the following: o o o
•
The Alpha-1 National Education Conference in Miami, FL Virtual Support group for Alpha-1 Kids Louisville, Cleveland and Phoenix Educations Days
Genetic Counselor, Kim Brown, assisted with the implementation of testing in several offices and represented the Alpha-1 community at the National Association for Genetic Counselors annual conference in Pittsburgh.
Approach As more individuals continue to be diagnosed with Alpha-1, there is a need for counseling to assist individuals in making informed decisions such as when to test children, when and how to share information with family members and family-planning options. 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: •
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To continue to provide clinical genetic counseling services by telephone to patients, family members and healthcare providers
•
To continue to participate and present 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 CEU program for genetic counselors in the Education series
•
To provide expertise in the Foundation’s decisions to exhibit and participate in genetic counseling educational forums and conferences
•
To evaluate the need for educational materials and content on the rare alleles currently being reported in the new testing protocol results
•
To participate in the development of Alpha-1 Young Adults decision tools and related technological platform content
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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 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 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. Currently there are over 5,400 individuals enrolled in the Registry. This represents the largest cohort of Alphas in the world. Individuals of all ages who are diagnosed with Alpha-1 Antitrypsin Deficiency and individuals identified as carriers of at least one deficient allele are encouraged to enroll. The Registry offers ongoing opportunities to participate directly in clinical trials of new therapeutic approaches in addition to other research they can participate in. The Registry website has been revitalized to include user friendly information about available studies. This includes an unbranded summary of studies available on the Clinicaltrials.gov website with an identifier number to quickly access the study. Also included is information on informed consent, criteria, and protocols. Patient participation in research has never been more critical than it is today. Enhanced education and awareness of the clinical research process has significantly decreased recruitment challenges and a strong support network has contributed to retention in clinical trials. Both factors highlight the importance of this robust Registry in advancing medical science.
Accomplishments Of the 5,400 Registry participants, 53% are severely deficient (ZZ or SZ) and 39% are carriers. Other genotype combinations now include F and I as well. Of the total number of enrollees, 67% are lung affected. This year has also seen a significant increase in the percentage of on-line applications which has grown to 69% of all enrollees. One of the largest obstacles in research is finding a sufficient number of volunteers to participate in studies. This resource provides investigators with easy access to a large core of ready and willing participants in the Alpha-1 community that are eager to take part in research on many levels and do their part in the search for a cure. In addition to clinical trials, being enrolled in the Registry affords the opportunity to participate in survey studies to determine health care costs, environmental risks, and assist in collection of other specific data to advance scientific and medical knowledge about Alpha-1. Since inception, the Alpha-1 Foundation Research Registry has recruited for 79 studies from investigators worldwide. The service of the Registry is available free of charge to all 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.
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Approach The newest endeavor by the Alpha-1 Foundation is to improve the current Registry by enhancing the patient information that is gathered; acquiring lung function tests and biological samples from willing participants and sharing this information in a new format for both investigators and others who may be interested. Dr. Charlie Strange, Director of the Alpha-1 Research Registry, has created a project to demonstrate utility of a new Registry model in which Alpha-1 affected individuals visit a Foundation designated Clinical Resource Center (CRC) to enroll in a new open access database facilitated by REDCap data entry. The CRC Registry runs parallel to the existing patient reported Registry until such time as the patient reported Registry is no longer pertinent. The purpose and goal of the Alpha-1 Foundation CRC Research Registry will be to obtain uniform, longitudinal, complete and accurate data that can be organized, de-identified (satisfying HIPAA safe harbor rules for the USA) and made available for the public to query. In addition to empowering the CRC network, regular updates from patient visits will give objective data-points to measure the progression of disease. Acquisition of biological samples will add additional research data. The program will develop a fully integrated and user friendly Registry at MUSC and provide for public data access of the de-identified information. It will also provide open access to Alpha-1 research publications. The current patient reported Research Registry continues to expand. This year garnered the largest enrollment in the Registry’s history with 549 individuals enlisted. This is a direct result of the ongoing promotion on the Foundation website and at all Foundation sponsored events. Additionally, all physicians in the nationwide Clinical Resource Center (CRC) network are requested to encourage patient enrollment.
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Family Testing / Testing Days The Alpha-1 Foundation’s family testing program, It’s All in the Family, is designed to encourage those diagnosed with Alpha-1 to talk to their family members about getting tested for Alpha-1 Antitrypsin Deficiency.
Accomplishments The Foundation has been using social media as well as timed emails to remind Alphas and their family members of the importance of getting tested. This year, family testing has been bolstered by a concerted social media campaign on Facebook and Twitter. This platform serves to remind Alphas to talk with their family members about getting tested and can easily direct them to suggestions and tools (brochures/ sample family letters) available on our website. The Clinical Resource Center (CRC) network is instrumental in promoting Family Testing. This year, two testing days were held in conjunction with the CRC physician. Each Center received test kits, genetic counseling brochures, and educational materials. Testing days are held in cooperation with our industry partners and the COPD Foundation. Targeted testing is encouraged and conducted through COPD screening. This year testing days were held in Waterbury, Connecticut, Wiscasset and Caribou Maine, and Nashville, Tennessee. The largest event was held in Salem, Virginia where 152 individuals were tested and 17% were found to have 1 deficient allele. The Foundation has also placed an ad in the COPD Digest encouraging all patients with COPD to get tested for Alpha-1. The digest is published quarterly with a circulation of 130,000.
Approach The Foundation will continue to promote Family Testing across all programs. This year at the Alpha1 National Education Conference, a themed “Family Reunion” booth encouraged attendees to revisit the topic with their loved ones. All attendees were asked to sign a leaf of an “Alpha Family” tree. A new pilot project utilizing the ACT Study data is currently in development. Individuals with abnormal genotypes identified in the past 5 years would be contacted and invited to send an email link to family members who may not have been tested yet. Also, building on the experiences and lessons learned from testing events, the Foundation plans to hold additional testing days. The locations that are in the planning stages include Columbia, Maryland, Minneapolis, Minnesota and Danbury, Connecticut.
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State of Florida Detection Program Funding for the State of Florida Detection Program has been secured for a record 17th year. This state-wide comprehensive program was created to identify Florida residents with Alpha-1 Antitrypsin Deficiency, assisting them in obtaining the appropriate medical treatment and, thereby, improving health outcomes and reducing healthcare costs for the state. This has been accomplished through the education of healthcare providers and patients, the distribution and processing of test kits, and early diagnosis. This year, over 4,145 test kits were distributed. In addition, education for healthcare providers was provided through a series of 9 medical related conferences, 4 Medical Grand Rounds, 7 CEU programs, 7 CME programs and exhibits at 27 conferences held throughout the state. Awareness of Alpha-1 among the residents of Florida was promoted through a series of 8 educational meetings, 11 feature stories, broadcast interviews, social media posts and attendance at 6 health fairs. Since its inception 17 years ago, approximately 29,500 Floridians have been tested for Alpha-1 by the Florida Program. Of those tested, 12.1% have been identified as carriers (one abnormal allele), 2.1% have been identified with Alpha-1 (two abnormal alleles), and both groups have been referred to appropriate medical services.
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Alpha-1 Coded Testing (ACT) Study The Alpha-1 Coded Testing (ACT) Study is a free and confidential research study based at the Medical University of South Carolina (MUSC) in Charleston. The study includes a research questionnaire and a finger-stick testing kit mailed to the individual's home. The purpose of the study is to investigate issues surrounding genetic testing, disease specific risks, and co-morbidities for Alpha-1 Antitrypsin Deficiency. The ACT Study evaluates the population demographics, reasons for testing, and outcomes through the confidential testing program. ACT provides a way for those at risk for Alpha-1, including family members of already diagnosed Alphas, to learn their Alpha-1 genotype. Each ACT participant is assigned a unique alpha-numeric code when they consent to be in the study. This code is saved in a secure database and written on the blood card. The “coded” blood card is sent to the Geneaidyx Lab for testing. Results are then sent to MUSC, linked with the code and mailed to the participant’s home, approximately 4 weeks after the sample is received. The results are not shared with the participant’s healthcare provider; however, patients are encouraged to talk with their provider about their results. Additionally, newly diagnosed patients are encouraged to join the Alpha-1 Foundation Research Registry. The ACT Study has enrolled 28,961 individuals since 2001 collecting data on the impact of at-home genetic testing. Alpha-1 antitrypsin genotypes have been generated on 25,041 individuals. This year, severely deficient test results have returned at 6.6% and one deficient allele at 41% of tested individuals. Each year patients screened through the ACT Study significantly increases and last year was no exception to this upward trend. In FY 2016, 3,207 individuals were tested compared to 1,551 participants tested in FY 2013. 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. The Foundation looks to our industry partners for support of this confidential testing study.
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Nurse Practitioners & Respiratory Therapists As part of an outreach effort to both respiratory therapists and nurse practitioners, the Foundation has created a continuing education course to promote testing for Alpha-1 for at risk patients. We have partnered with the American Association for Respiratory Care (AARC) to formulate an online CRCE program consisting of 3 presentations by Alpha-1 experts – Drs. Jamie Stoller, Charlie Strange and Robert Sandhaus. The American Association for Respiratory Care (AARC) remains a strong strategic partner in educating Respiratory Therapists about Alpha-1. The CRCE online course for RTs is promoted on both our website as well as theirs and at the AARC national congress. Nearly 200 respiratory therapists have accessed the course this year. Nurse Practitioners are first line providers and their awareness of Alpha-1 is of utmost importance in detecting Alpha-1. Therefore, a similar program was created from this template to provide continuing education to nurse practitioners. The success of the respiratory therapist program has allowed the Foundation to partner with the American Academy of Nurse Practitioners (AANP) to develop an online Alpha-1 course specific to the needs of these health professionals. This course again features Dr. Jamie Stoller as presenter. To date over 2,700 nurse practitioners have accessed the course. The course has been promoted on the Foundation’s website and allied health venues. The Foundation exhibited at the American Association of Nurse Practitioner’s (AANP) National Conference. This three day event in San Antonio, Texas presented an excellent opportunity to engage with over 5,000 first line health care professionals. Our reach now also includes the National Association of Pediatric Nurse Practitioners (NAPNAP). We exhibited at their national conference held in Atlanta and we were able to promote the NP course to attendees. The Foundation also has also partnered with the Nurse Practitioner Associates for Continuing Education (NPACE) to exhibit at 9 conferences throughout the country. States in which conferences will take place include Texas, Rhode Island, California, Louisiana, Indiana, Florida, South Carolina, Arizona, and Massachusetts. The hallmark of the Foundation’s exhibit is volunteer staffing by the Alpha community, many of whom are RNs and NPs themselves.
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Clinical Resource Centers The Clinical Resource Centers (CRCs) are a valuable component of the Alpha-1 Foundation’s efforts. The program was established with the goal to have centers with special interest in Alpha-1 to foster Alpha-1 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 or expertise in Alpha-1. Over 125 physicians throughout the country provide care to Alphas and their families. These centers also serve as the conduit to research. Multi-center projects allow smaller sites to include their patients in research efforts. Currently, there are 73 CRC sites in 33 states and one in Canada. This year, all CRC sites were requested to update their information to ensure that the most current information to be posted on our website. Practice patterns change (retirement, transition to another practice, health care system transformation) and consequently there have been changes to the sites that participate. The listing of each CRC will now only include one lung and one liver specialist at each site. Additionally, as part of the designation process, all CRC physicians must take a knowledge based exam. The test is sent to each physician directly to phone or computer. The confidential results are managed by an on-line learning platform that was purchased by the Foundation. This system helps assure that the community has access to practitioners that are well informed on Alpha-1. Many patients must travel a great distance to see a physician in the Clinical Resource 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 local (or nearest) CRC if they have not done so already. This program has helped 33 patients access an 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 will be held in October in Miami, in conjunction with the Investigators meeting. The rich agenda will include topics on current research studies, recruitment for Clinical Trials, community partnerships and innovative programming. Our industry sponsors will have an opportunity for engagement at the Forum. The feedback from the attendees of the last Forum indicated that many of the Alpha-1 physicians are interested in objective data on replacement therapy and co-operative projects with industry. Additionally, it was suggested that industry research be included on the agenda.
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Continuing Education for Physicians Educating healthcare providers remains a mission centric goal for the Foundation. We provide opportunities for healthcare practitioners to gain new knowledge so they can, in turn; provide the best care for their Alphas. An investment in knowledge enables us to educate and empower the next generation of health-care workers. Education remains an integral priority for advocating for an accurate diagnosis. The revised Clinical Practice Guidelines, The Diagnosis and Management of Alpha-1 Antitrypsin in Adults, has recently been published in the Journal of the COPD Foundation. This document will serve to help healthcare providers change their practice pattern to include testing all COPD patients for Alpha 1. However, instilling this tenet requires ongoing education and repetitive messaging.
Accomplishments Most primary care physicians access continuing education credits (CMEs) through Grand Rounds, which are often offered in practice venues. This year, 9 Grand Rounds were held nationwide in a variety of hospital and clinic settings. This arena has proven to be an important venue in capturing the primary care physician audience. Most important, participant feedback indicates that many will change their current practice pattern to include testing all patients with COPD for Alpha-1. These meetings feature our Clinical Resource Center physicians as speakers and are often supported by Alpha-1 volunteers who provide educational material. Live streaming the content enhances audience reach to include allied health professionals. The Alpha-1 Foundation Support Group Leaders often support these events at exhibits and provide Alpha-1 materials. By connecting directly with providers, these volunteers give a face to a rare disease that may have previously been unknown. An additional opportunity for Support Group Leaders to engage with physicians is available through our partnership with the National Association for Continuing Education (NACE). NACE has developed a 7 credit CME course for primary care physicians. This nationwide series includes a 1 hour presentation on Alpha-1. This year, the Foundation was able to present at 10 venues across the country. Utilizing the patient community to convey their personal stories has given these presentations a vitality and connection to the patient perspective. This awareness underscores the need for detection efforts to be given priority and hopefully change practice patterns.
Approach We continue to partner with professional organizations to achieve a wide presence within the medical education arena. The challenge is to market an Alpha-1 presentation to hospitals and clinics with a limited interest in rare disease. Consequently, we often insert the Alpha -1 message in COPD or asthma presentations that have been requested through our CRC physicians. The success of this series has led us to again pursue this learning platform in fiscal year 2017 with a commitment to hold additional Grand Rounds across the country. The Foundation will exhibit at ten Page | 57
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.
Medical Student Education In partnership with the National Organization for Rare Disorders (NORD), a Patient/Caregiver Speakers Bureau has been created. It consists of volunteers willing to share their stories to promote better understanding of the challenges of living with a rare disease. A core group of trained volunteers from the Alpha-1 community are prepared to respond to opportunities to speak to medical students on university campuses and at medical student conferences. The first opportunity took place on April 1-2, 2016. An Alpha-1 patient met with medical students at the annual convention of the American Medical Students Association (AMSA) in Washington, DC. Additionally, NORD is developing a video library on rare diseases for distribution to medical schools. This will contain a collection of 3 minute personal stories from patients and caregivers. Alpha-1 was one of the first to be interviewed for this project which will serve as an impactful educational tool for the next generation of health care providers. The Foundation has also been asked to routinely contribute to AMSA’s online newsletter.
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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 scientists, physicians, industry, government agencies, other voluntary health organizations and patients. These meetings have been a high priority for the Foundation since inception as they are intended to spark interest in Alpha-1 and demonstrate the Foundation’s credibility within the rare disease community. The meetings and conferences can be loosely divided into two types, one focusing on basic, translational and clinical science of Alpha-1 Antitrypsin Deficiency and the other on advocacy and education. Both types are adequately represented in Table 1 that lists past and currently planned meetings sponsored by the Foundation. Table 1. Alpha-1 Foundation Scientific, Advocacy and Educational Meetings Scientific Meetings • Therapies for Alpha-1 Antitrypsin Deficiency: 1999 • Aerosolized Therapies for Alpha-1 Antitrypsin Deficiency: 1999 • Alpha-1 Antitrypsin Deficiency and Other Conformational Diseases: 2000 • Alpha-1: The Challenge of a Genetic Condition: 2000 • Inflammatory Markers: 2001 • Epidemiological Aspects of Alpha-1 Antitrypsin Deficiency: 2002 • Stem Cell Therapies in Reparative Medicine: 2002 • Environmental, Occupational, and Genetic Risk: 2003 • Chronic Bronchial Injury in Humans & Models: 2004 • Alpha-1 Antitrypsin Deficiency and Other Liver Diseases Caused by Aggregated Proteins: 2006 • New Insights into the Biology of AAT: 2007 • Protein Misfolding and Lung Disease: 2010 • Biennial Investigators’ Meeting: 2010 • Biennial Investigators’ Meeting: 2012 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2013 • Biennial Investigators’ Meeting: 2014 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2015 • Biennial Investigators’ Meeting: 2016 • Biennial International Research Conference on Alpha-1 Antitrypsin: 2017 Advocacy and Educational Meetings • Screening and Detection: 1999 • Computed Tomographic Scan Workshop: 2001 • Models of Emphysema: Speeding the Pace of Progress: 2002 • The Impact of Genetic Testing: Ethical, Legal, and Social Issues: 2003 • Quantitative Chest Tomography in COPD Research: 2008 Page | 59
• 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 The number of attendees at a conference is limited for logistical reasons. Therefore, there is a critical need to inform the entire interested community about the proceedings of the meeting. The Foundation has been successful in meeting the need by publishing meeting proceedings in peerreviewed 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. In preparation
Scientific meetings These conferences address specific topics to advance our understanding of the biology of alpha-1 antitrypsin, help to identify new treatment targets, discuss critical issues in disease management including its detection, and explore ethical issues (Tables 1 and 2). The meetings serve as a forum for academia, industry, government funding 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 upcoming scientific meetings this year. One is the 4th Biennial Alpha-1 Foundation Investigators’ Meeting that will take place on October 14, 2016 in Miami, Florida. This is one of the most important meetings organized by the Foundation. Investigators who have received Foundation grants in the last two years preceding the meeting are invited to present. It provides a showcase of recently funded research findings and advances in the state of the cure, while affording our investigators a chance to interact, discuss, and present their research to various members of the Alpha-1 community. The last Investigators’ Meeting, held in October 2014, was a huge success with over 100 attendees and 18 investigators that presented updates on Foundation-supported grants. We expect to eclipse the success experienced at the 2014 meeting and are eagerly working towards Page | 60
making the 2016 meeting a valuable experience for all who are involved. In addition to investigators, the audience will consist of 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 scientific conference is the 3rd Biennial International Research Conference on Alpha-1 Antitrypsin and the 6th International Patient Congress in Lisbon, Portugal on April 5-8, 2017. The goal is 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 these meetings and will provide planning and logistical support. The scientific session’s theme will be new therapies for Alpha-1 Antitrypsin Deficiency. Advocacy and educational meetings These conferences address diverse issues that are critical to the Foundation’s mission and include topics such as advocacy, disease management and a broad educational program (Tables 1 and 2). As new challenges emerge that require input from several stakeholders and experts, the Foundation continues to organize meetings to discuss strategies to meet those challenges. For example, the Foundation convened the 15th Gordon L. Snider Critical Issues Workshop, on April 1st in Bethesda, Maryland. The workshop, entitled “Ethical Issues Related to Clinical Research and Rare Diseases,” featured two expert-led sessions in the following areas: Clinical Research in Rare Diseases, and Clinical Research Ethics in Rare Diseases. The goal of this workshop was to discuss the ethics of rare disease research and to make recommendations that could inform future clinical research in rare diseases with a focus on Alpha-1 Antitrypsin Deficiency.
Currently, a global research and medical education meeting is in the planning stages and will be held in Dublin, Ireland on November 3-4, 2016. Topics for this meeting will include registry harmonization, Clinical Resource Centers, education for clinicians and non-US research funding. This is a crucial meeting and we are looking forward to great participation. The Clinical Resource Center Forum will meet again this year in Miami, Florida on October 15, 2016. The purpose of this conference is to inform the Clinical Resource Centers of the Foundation’s activities, to educate them on the management of Alpha-1 Antitrypsin Deficiency related lung and liver disease, and to engage them in patient outreach programs in their geographical area.
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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. This year the Foundation exhibited at many of the major professional society meetings, including the American Thoracic Society (ATS), American Association of Nurse Practitioners (AANP), European Respiratory Society (ERS), American Association for Respiratory Care (AARC), the 2016 International Rare Lung Diseases Research Conference, 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 15th through the 17th, members of the Alpha-1 Foundation staff attended the American Thoracic Society’s (ATS) 2016 International Conference held in San Francisco, California. The Foundation participates as an exhibitor at this annual conference in order to grow awareness for its various research programs and to reach out to pulmonologists, respiratory therapists, and physicians from around the world. In addition to its participation at the exhibits at the ATS conference, the Foundation also hosted an annual grant awards reception to highlight a new chapter for the Foundation’s research program. This reception provides the opportunity to officially announce and acknowledge our newly awarded grantees. The awards reception was held at the San Francisco Exploratorium on Monday, May 16th and hosted over 150 attendees.
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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 for lung disease, but additional interventions are sought after, either as replacement of or in addition to intravenous alpha-1 antitrypsin. On the other hand, there is no specific treatment for liver disease short of organ transplantation. Therefore, there is a clear need for new therapeutic solutions. Early on, the Foundation leadership recognized the critical role played by biomedical research in the search for novel therapies. By directing significant resources to a growing research program, the Foundation has established itself as the worldwide leader of Alpha-1 research support. The Alpha-1 Foundation has invested nearly $60 million to support Alpha-1 Antitrypsin Deficiency research and programs at 103 institutions in North America, Europe, the Middle East, and Australia. Visionary donors, like you, are making it possible for the Foundation and its partners to leap forward in research and the treatment of Alpha-1. The Foundation continues to work collaboratively with biotech and pharmaceutical industries as well as government regulators to promote the fastest possible development and regulatory approval of new therapies. Foundation-sponsored research has had a significant impact on our understanding of the mechanisms underlying the clinical manifestations of Alpha-1, and has identified novel drug targets likely to lead to new therapeutic solutions. The Foundation is now in a position to promote more translational research. Future research dollars will be increasingly directed towards treatmentrelated research through the Alpha-1 Foundation’s and The Alpha-1 Project’s grant programs involving academic institutions and biotech/pharmaceutical companies. This would not be possible without the many academic investigators whose discoveries have brought the field to this critical juncture. Thus, our peer-reviewed research program has created a solid knowledge base for translational research projects that have the promise to positively impact the health of Alphas and steer innovative research out of the lab and into practice faster than ever. The high quality of medical care that many Alphas enjoy today is built upon years of effort by physicians, scientists, and other medical professionals investigating the causes of and potential treatments for Alpha-1. It is this tireless effort of the countless medical professionals that has made many once life-threatening diseases and conditions a faded memory and will make Alpha-1 a disease of the past.
Accomplishments While all grant proposals are peer-reviewed by experts for scientific merit, the diverse nature of the applications received makes it difficult to provide a fair qualitative assessment of the research by a single review group. Therefore, the program has been divided into an National Institutes of Health (NIH) style review process with a Grants Advisory Committee (in-cycle grants) and an out-of-cycle grant funding opportunity that are reviewed by selected experts appropriate for the topic of the grant. Smaller grants with a fixed budget are routed to the in-cycle program; most of them fall into the basic research category and can fairly compete with each other for scientific merit. Larger proposals, or projects, are assigned to the out-of-cycle program; typically these are translational research studies requiring funding at a higher level than the in-cycle grants.
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In-Cycle Grants The Foundation’s in-cycle grant opportunities are available in several different categories, each having a different maximum funding level and period of support. The categories are: Pilot and Feasibility grants ($40,000/year – 1 year commitment), Postdoctoral Research Fellowship grants ($50,000/year – 2 year commitment), and Research grants ($100,000/year – 2 year commitment). All 3 of the aforementioned grant categories and funding levels are also available as Ethical, Legal, and Social Issues (ELSI) applications. Out-of-Cycle Grants The Foundation created the out-of-cycle grants program to support large grants that do not fit into the fixed funding levels, start date and periods of support offered by our in-cycle grant categories. This program promotes research that could eventually result in the improved health of individuals with Alpha-1 Antitrypsin Deficiency. Out-of-cycle grants can be Foundation-initiated requests for application (RFA) or Investigator-initiated applications. The following out-of-cycle grants are currently active: •
Jeffrey Teckman, Saint Louis University “Alpha-1 Antitrypsin Adult Clinical and Genetic Linkage Study” $1.4 Million over 5 years
•
Chao Wang, Scripps Research Institute “Managing Proteostasis to Correct A1AT Deficiency” $100,000 over 2 years
•
Charlie Strange, Medical University of South Carolina “Alpha-1 Foundation Clinical Resource Center Registry” $581,443 over 2 years
•
Karina Serban, National Jewish Health “Gordon L. Snider Scholar Award: Endothelial-monocyte interactions modulated by A1AT” $225,000 over 3 years
•
Richard Sifers, Baylor College of Medicine “Establishing the contribution of microRNAs as a disease modifier” $300,000 over 2 years
•
Ani Manichaikul, University of Virginia “Alpha-1 antitrypsin in African Americans and Hispanics” $365,000 over 2 years
•
Christian Mueller, University of Massachusetts Medical School “Ferret Knockout Model for Alpha-1 Antitrypsin Deficiency” $335,626 over 2 years
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•
Andrew Wilson, Boston University “Open Source CRISPR Gene Correction of PiZZ iPSCs” $100,000 over 1 year
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, the CHEST Foundation, the American Association for the Study of Liver Diseases, the American Lung Association, the American Association for Respiratory Care and the National Institutes of Health plays an important role. We co-fund Alpha-1 related grants with all of the listed organizations. The Foundation, in partnership with the American Association for Respiratory Care (AARC) and the American Respiratory Care Foundation (ARCF), is now funding a clinical training grant for respiratory therapists. The objective of this award is to provide additional career development support for outstanding respiratory therapists (RTs) who conduct research (clinical or translational), including detection, inhalation therapies, clinical care, diagnostics, and therapeutic tools in Alpha-1 Antitrypsin Deficiency related lung disease. It is expected that the award will provide an incentive for the pursuit of a Master’s-level (or higher) degree and a career in chronic lung disease research with a focus on Alpha-1. Funds will be used to support an RT’s advanced training in research (Master’s-level degree or higher) with the subject of the deliverable research project being a meritorious project regarding Alpha-1 Antitrypsin Deficiency. The Alpha-1 Foundation, AARC and ARCF will collectively commit up to $30,000 ($15,000/year) over two years to fund one award. The following matching grants are currently active: •
Alpha-1 Foundation/CHEST Foundation Clinical Research Award in COPD and Alpha-1 Antitrypsin Deficiency Award: $25,000 (A1F contributes $12,500) 2016 Grantee: Chiara Rigobello, Ph.D.
•
Alpha-1 Foundation/ATS Research Grant Award: $80,000 (A1F contributes $60,000) 2015 Grantee: Monica Goldklang, M.D.
•
Alpha-1 Foundation/AASLD Liver Research Grant Award: $225,000 (A1F contributes $150,000) 2015 Grantee: Yan Wang, Ph.D.
•
Alpha-1 Foundation/Alpha One Foundation Ireland Matching Grant Award: $160,000 (A1F contributes $80,000) 2015 Grantee: Noel G. McElvaney, MB, BCh, BAO
Recent Accomplishments The Foundation introduced a major change to the in-cycle peer-reviewed program by increasing the level of first-year funding of new in-cycle grants from $550,000 to a record $750,000. Last year, the Page | 65
Foundation further emphasized its dedication to funding Alpha-1 research by again increasing firstyear funding from $750,000 to $1,000,000. The Foundation received 39 Letters of Intent (LOIs) for its 2015-16 in-cycle grants program, and, for the third year in a row, over half of the investigators of the 27 LOIs invited to submit a full application came from foreign institutions. This is a reflection of our continued efforts to expand the announcement of our funding opportunities and improve the accessibility of our grants program to investigators worldwide. Last year, the Foundation transitioned its grant management system to a fully-online grant management system called Proposal-Central. It is a collaborative, 100% web-based system used by more than 50 nonprofit and grant-making organizations. It’s online grant management capabilities have allowed the Foundation to interact seamlessly with applicants, reviewers and grantees for a faster, more efficient grants management experience, which has been a welcomed change from the previous, paper-based application and review system. The Foundation just completed its first grants cycle using the new system and looks forward to making enhancements to its application and review processes for the next cycle.
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Childhood Liver Disease Research and Education Network (ChiLDREN) In 2004, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and Office of Rare Disease Research began funding the Cholestatic Liver Disease Consortium (CLiC) at the Children’s Hospital Colorado (in Denver) under Dr. Ronald Sokol. The CLiC Network was funded to study five rare, pediatric cholestatic liver diseases, including Alpha-1 Antitrypsin Deficiency related liver disease. The CLiC Network sites were selected to include the same 10 clinical sites as the NIDDK-funded Biliary Atresia Research Consortium (BARC). Dr. Jeffrey Teckman, a leading clinician and researcher of Alpha-1, had recently relocated his practice and academic program to Saint Louis University and Cardinal Glennon Children’s Hospital, which were not initially part of the CLiC and BARC Networks. Since 2005, the Alpha-1 Foundation has been providing funding to support this effort. In November of 2007, the CLiC Network opened a study of four rare pediatric cholestatic liver diseases. This study is called Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC). In June of 2014, the official name of the CLiC network changed from “Promoting Research of A1AT Deficiency Liver Disease through the Cholestatic Liver Disease Consortium (CLiC)” to “the Childhood Liver Disease Research Network (ChiLDReN).” There are currently seven active research studies in the ChiLDReN Network (including the LOGIC study), and several new clinical trials in various stages of development. The Network also includes a variety of active committees, including a Working Group that is focused on Alpha-1 research. This committee advises the Network on developments in Alpha-1 that should be addressed by existing studies (such as LOGIC) or by new studies that could utilize data and/or specimens already collected by the Network. While much of the past year was spent on working to clearly identify the goals of the Network for the next five years, the Network has recently reactivated the disease-based working groups, including the Alpha-1 group. With the continued support of the Alpha-1 Foundation, the Denver ChiLDReN site plans to renew the subcontract to Dr. Jeff Teckman at St. Louis University and continue his funding through the current five-year grant cycle.
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Liver Initiative With the increasing life-expectancy of patients with Alpha-1 Antitrypsin Deficiency, partly due to the beneficial effects of augmentation therapy on 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 on the natural course of the condition. The Alpha-1 Foundation therefore has embarked upon a liver initiative with the goal to better understand the clinical implications of liver disease in adult patients with Alpha-1. In 2013, Alpha-1 liver researcher, Dr. Jeffrey Teckman, of Saint Louis University, was awarded an out-of-cycle research grant entitled, “Alpha-1 Antitrypsin Deficiency Adult 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 Saint 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, 92 patients with Alpha-1 liver disease had been consented and 66 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% adult Alphas have sub-clinical or clinical liver disease. Previous research had primarily focused on children with liver disease.
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NCATS Fellowship The Alpha-1 Foundation and the Alpha-1 Project has 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. After a careful review of suitable applicants, Michael Ianotti, PhD was chosen as the best candidate. He began his fellowship in 2014. Due to the promising progress of his work at NCATS, the fellowship was extended from the original two years to three. The goal of his research is to use high-throughput technology to test a large library of compounds available at the institute. To accomplish this, he has developed a ZZ-liver cell system for in vitro analysis. His progress is monitored by and he receives advice from a group of Alpha-1 experts. The program is co-administered by the Foundation and The Alpha-1 Project. The goals of the programs are: •
•
To develop multi-faceted approaches to monitoring the folding and fate of alpha-1 antitrypsin (AAT), particularly focusing on the Z variant (ATZ) o Most clinically relevant mutation with broad applications across human disease o Generation of reporter-based cell lines expressing tagged (labeled) versions of ATZ o In vitro biochemical approaches to analyzing AAT protein stability o Use ATZ reporter cell lines and in vitro assays to screen large chemical libraries available at NCATS o Probing for hit compounds (potential drug candidates) that elicit a desired effect in our screening assays o Share developed cell lines, assays, and results with the AAT and scientific community for further analysis and validation To send lead candidates to NCATS medicinal chemistry for optimization and further development (analog synthesis, etc.)
The assays and reporter cell lines have been developed and are now being tested. The goal for the remainder of this year is to begin screening sample libraries before proceeding to the large libraries.
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DNA and Tissue Bank/LTRC The Foundation made a commitment to the University of Florida to help fund the project entitled, “Genotyping for Alpha-1 Antitrypsin Deficiency in the Lung Tissue Research Consortium (LTRC) Database.� The LTRC, a NIH sponsored program, collects and banks lung tissue and blood from patients with lung disease including COPD, who have died or have undergone resectional lung surgery, along with extensive phenotypic data including lung imaging. To date, the Alpha-1 Antitrypsin Genetics Laboratory has tested 1,022 and has found 3 ZZ, 3 SS, 67 MS and 50 MZ. This program is ongoing and the LTRC makes lung tissue and other samples available for interested investigators at no cost.
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