The Alpha-1 Foundation hosted the 4th International Research Conference and the 7th Global Patient Congress, April 3-6, 2019, in Dubrovnik, Croatia. The Patient Congress was attended by 160 participants representing 32 countries. The Patient Congress began the evening of April 4th with a welcome reception and a joint dinner with the participants from the International Research Conference in which Alpha-1 Antitrypsin Deficiency (Alpha-1) patients, caregivers, family physicians, researchers, and industry partners interacted. The Congress concluded on April 6, 2019.
The Patient Congress’ themes were awareness, detection, and access to therapies. During this Global Patient Congress, objectives aimed to:
- Present the latest education concerning Alpha-1 research, therapies and patient care
- Develop pathways for expanded access to augmentation therapy
- Broaden individual awareness and participation, and inspire local action
- Identify possible next steps for organizations and individuals who are looking for new solutions
- Exchange best practices and success stories in advocacy and collaborative efforts
- Provide networking opportunities between patients and experts
Below is a summary of the 7th Alpha-1 Global Patient Congress. The presentations can be found after each summarized topic.
The Congress began with welcome remarks from Jeanine D’Armiento, MD, PhD, chair of the Board of Directors of the Alpha-1 Foundation, and Miriam O’Day, president and CEO of the Foundation. Richard Lovrich, the Congress’ moderator, was introduced. The first session included presentations from the Patient Congress’ presenting sponsors, Grifols and CSL Behring. Each affirmed its commitment to Alpha-1 awareness, detection, and desire for expanded access to augmentation therapy.
Following, there was a session entitled, “Research and Therapeutic Updates” that was chaired by the Alpha-1 Foundation’s scientific director, Adam Wanner, MD. Robert Sandhaus, MD, PhD, presented “What is next in Therapeutic development,” where he explained that we are in an accelerated period of therapeutic development with novel approaches, such as augmentation therapy, with recombinantly modified protein, gene silencing for liver disease, novel gene therapy approaches, including combination of gene therapy and gene silencing, to treat both lung and liver disease, and various gene correction technologies.
- Is the Alpha-1 MZ Carrier State Clinically Relevant (Gerry McElvaney, MD, BCh, BAO, FRCPI, FRCPC)
- What is Next in Therapeutic Developments (Robert Sandhaus, MD, PhD)
The final morning session was entitled, “Physicians Education & Collaborative Efforts.” This session was chaired by leading UK Alpha-1 advocate, Karen O’Hara. Joanna Chorostowska-Wynimko, MD, discussed ERN-LUNG (European Reference Network) and the network of Alpha-1 doctors that have been developed across Europe. Marc Miravitlles, MD, presented on EARCO, the European Alpha-1 Research Collaboration. It is a pan-European network committed to promoting clinical research and education in Alpha-1. The core project is the pan-European Alpha-1 Registry, a collaboration which will offer longitudinal real-world data for patients with Alpha-1.
- Physicians Education & Collaborative Efforts (Karen O’Hara)
- ERN-LUNG (Joanna Chorostowska)
- EARCO (Marc Miravitlles)
The afternoon session began with regional updates from many country leaders and representatives, whereby country leader representatives described the current state of Alpha-1 in their various regions. Suggestions and recommendations on how to engage patients and physicians were discussed.
Marion Wilkens, from Alpha-1 Deutschland, discussed the growth of Alpha-1 related organizations in Germany and Austria and gave examples of how her organization has been able to engage patients and get them involved in Alpha-1. The Alpha-1 Deutschland’s 2019 motto is, “Get off the sofa and into life.” Wilkens also presented ideas on how to engage Alpha-1 family members in activities such as psychology projects, children’s books and organization of a Youth Day.
Elena Goyanes, from Asociación Alfa-1 de España, presented on activities in Spain. She stated that while augmentation therapy is available to 450-550 patients, there are difficulties in testing and genotyping. Goyanes also stated that there is a lack of knowledge and education and preventative programs for children and youth. The Asociación Alfa-1 de España is very active on social media to engage all stakeholders and it conducts patient support and education as part of its mission.
Cristina Barbiero from, Associazione Nazionale Alfa1-At Italia, presented activities in Italy. The Associazione is the first organization in Europe to pilot test for self-infusion of augmentation therapy. The Associazione Nazionale Alfa1-At Italia organizes and coordinates many awareness and advocacy activities, including Alpha-1 days, education materials and social media. The Associazione Nazionale Alfa1-At Italia is a member of many European Alpha-1 advocacy and research organizations, including EURORDIS, ERN-ePAG, and EARCO. There is an active Registry in Italy.
Steven Knowles founded the Alpha-1 Association of Australia in 2005. The Association is very involved in social media while managing an online discussion forum for Alphas, caregivers and family members. Genetic testing is available in Australia, but it is conducted at the patient’s expense. Augmentation therapy is currently available in Australia, but it is not paid by the government. A position paper for augmentation therapy funding has been created and can serve as a guide for other countries to follow.
Kathy Day presented the Alpha-1 activities in South Africa. There are many challenges in South Africa. South Africa does not have a physician who specializes in Alpha-1. There is a lack of patients and Alpha-1 doctors to participate in clinical trials, although there have been some achievements. Awareness is slowly being raised in South Africa, a patient registry is in progress, and Alpha-1 is now listed as a rare disease in South Africa. While achievements have been made, there is work to do.
- Western Europe: Frank Willersinn (Belgium) and Marion Wilkens (Germany)
- Southern Europe: Elena Goyanes (Spain) and Cristina Barbiero (Italy)
- Eastern & Central Europe: Marius Ene (Romania) and Alexandra Ilić (Serbia)
- Middle East: Rabiya Taok (Lebanon)
- South Pacific: Steve Knowles/Jenni Nankervis (Australia and New Zealand)
- South America: Carlos Cambon (Argentina) and Luis Felipe Moreno (Colombia)
- Africa: Kathy Day (South Africa)
- North America: Miriam O’Day (USA) and Gary Murphy (Canada)
The following session was entitled, “Alpha-1 Patient Engagement in Research,” and was presented by Shane Fitch, from Lovexair in Portugal. Fitch described a social platform that Lovexair has created which provides training and resources to patients and their healthcare providers with the aim to improve social, educational, and clinical support to patients. Fitch discussed the importance of patient engagement, advocacy, the value of patient registries, and emphasized the need to work together. Marion Bouchecareilh, CRCN CNRS, presented on the impact and importance of participation in clinical trials.
There was an afternoon session entitled, “The Young Patient Voice.” Richard Lovrich interviewed Arran Strong, a young Alpha-1 patient who has a passion for surfing, and Martina Cambon, the daughter of an Alpha-1 patient. Each discussed the impact of living and caring for a loved one with of Alpha-1 and emphasized the importance of taking care of your health as well as living life to the fullest. They emphasized the use of social media to build and connect the Alpha-1 community. The interview was inspiring and uplifting.
Frank Willersinn, MD, presented on “Emotional Balance: Being a leader and a Patient.” Willersinn is a tireless advocate who serves as a leader to the Alpha-1 community. Nathalie Sewer presented a personal and touching testimonial about being a patient who has undergone a lung transplant.
In the evening of April 4th, a cocktail reception took place in which Julie MacNeil presented her Alpha-1 family story. MacNeil’s story emphasized the need to get tested and have family members get tested. She is an inspirational speaker.
The morning of April 6th began with remarks from Richard Lovrich. The first presenter was Karen Skavoll, who is a Team Alpha athlete. She has won weightlifting competitions and travels to inspire patients and their family members to exercise and stay healthy. Skavoll led the Congress with some exercise that can be done standing up or sitting down. Skavoll and her husband organized a walk after the Patient Congress was over.
The following session was entitled “Together Biding a Case for Augmentation Therapy.” James Stoller, MD, MS (Org. Dev.) presented “Current Treatment Guidelines.” Stoller stated that there are multiple guidelines (15) regarding management of individuals with Alpha-1. These guidelines come from different medical societies/organizations in different countries. Agreement on recommendations is variable, likely affected by local conditions on disease prevalence, treatment availability, and health care delivery strategies. Four possible reasons for discordance:
- Disease prevalence and manifestations may vary across different geographies. Testing broadly where prevalence is high (e.g., all patients with Chronic Obstructive Pulmonary Disease, COPD) may be less compelling where prevalence is low.
- Augmentation therapy is available in some countries but not others.
- Data are interpreted differently by different groups of experts.
- Time has transpired between guidelines (span 1989 to 2016, with new knowledge in between).
Sandhaus presented on “Health Management Outcomes,” and discussed the Alpha-1 Disease Management and Prevention Program (ADMAPP) that AlphaNet is supporting in Canada that focuses on self-management through education. Sandhaus concluded that a program to promote self-management of individuals with lung disease due to Alpha-1 has resulted in measurable improvements in healthcare utilization, quality of life, and possibly, survival. Additionally, a transatlantic survival analysis has (preliminarily) indicated that augmentation therapy appears to improve survival in patients with lung disease due to Alpha-1.
The final session before lunch was a dual presentation by researcher Carina Schey and Julie Birkhofer. They discussed “Different Perspectives in the Provision of Treatment.” Birkhofer is from the Plasma Protein Therapeutics Association (PPTA) and discussed why plasma protein therapies are needed and various rare diseases that are treated by plasma proteins. There was discussion demonstrating that access to therapies varies greatly from country to country and that is due to several factors. Awareness and education are vital to improving access to therapies for everyone.
- Access Challenges to Plasma-Derived Treatment (Julie Birkofer)
The afternoon session began with a panel discussion with the presenters from the “Together Building a Case for Augmentation Therapy.” This was an interactive session with the audience posing questions to the panelists.
Following was a presentation from Yordan Aleksandrov, from Rhode Public Policy (RPP). RPP is working with the Alpha-1 Foundation in its advocacy and communication efforts within the Alpha-1 Foundation’s Global Program. Aleksandrov discussed various advocacy tools that have been used from legislation to public health programs to working-groups and guidelines. He described the importance and value of advocacy and that patient participation is important to create change. Aleksandrov discussed the importance to engage policymakers via outreach, support, collaboration, and partnership. Aleksandrov mentioned that Alpha-1 Awareness Day is April 24th, and there will be a social media campaign to promote it. RPP secured and played videos form EU Parliamentary Officials who stated the importance of Alpha-1 awareness.
The next session was entitled “Leadership Panel: Ask Your Peer.” The panelists were Jeanine D’Armiento, MD, PhD, chair of the Board of Directors, Frank Willersinn, MD, board member, Miriam O’Day, president and CEO, and Randel Plant, senior director of research programs, of the Alpha-1 Foundation. This session afforded the attendees to ask questions to the Alpha-1 Foundation and Global program leaders. The leaders emphasized that the Alpha-1 Foundation is open to suggestions and recommendations on how the Alpha-1 Foundation can help the global community’s stakeholders, including patients, carers, patient organizations and leaders, healthcare providers and researchers.
D’Armiento explained a potential new infrastructure strategy that would involve the creation of hub centers that would link and provide mentorship, guidance, and information to organizations, leaders, and regions that may not have the resources to improve Alpha-1 awareness and increase detection and develop advocacy strategies and actions. A suggestion was made to create a social platform in which the global stakeholders can interact and communicate in one forum. There was an explanation of the Alpha-1 Foundation’s grants program and it was emphasized that the Foundation accepts grant applications from researchers from anywhere in the world. In fact, the Alpha-1 Foundation received more letters of intent from international researchers than ever before in its past grants cycle.
It was emphasized that the Alpha-1 Foundation and the Global community will work together and collaborate as partners. The Global community will help the Alpha-1 Foundation and the Alpha-1 Foundation will help the Global community.,
O’Day presented the next steps, which include continued partnership with RPP with public policy representation, further develop the Global communication strategies based on input from the Global community, consider and/or adopt recommendations and suggestions made by the Global community at the Congress, establishing guidelines to identify Alpha-1 Global hubs which will aim to link larger Alpha-1 non-government organizations with smaller groups, provide mentorship for programs, enhance communications, foster collaboration, establish links to the physician community and explore setting up a global, interactive communications platform.
The Congress concluded with remarks from Jeanine D’Armiento and Miriam O’Day, and it was a great forum for networking and learning from each other.
AlphaNet • CSL Behring • Grifols
Arrowhead • Kamada • Vertex