Abstract
Executive summary
The Alpha-1 Foundation (Foundation) has a long history of recognizing the importance of ethical, legal, and social issues (ELSI) in rare genetic disease research [1]. In April of last year, the Foundation assembled a distinguished panel of ethicists, social scientists, clinical investigators, and legal experts to explore ELSI issues related to research in rare diseases.
Marilyn Coors, PhD, Chair of the ELSI Working Group of the Foundation and of the meeting, explained the conference goal was to “discuss the ethics of rare disease research and, if possible, make recommendations that can inform future clinical research in rare diseases”. She continued “if we can’t accomplish those two charges with the people who are here today, I don’t know who can”.
Clinical research in rare diseases such as alpha-1 antitrypsin deficiency (AATD) encounters unique challenges including a small patient population for recruitment, limited research funding, and an urgent need for rapid drug development. Efforts have been under way to streamline research in rare diseases through flexible study protocols, while protecting the rights and interests of volunteer participants. The goal of this conference was to foster discussion about critical and emerging ethical issues in rare disease research that could contribute to the formulation of recommendations about future research.
Participants in the Conference included Foundation ELSI Working Group members, clinical scientists, patient representatives, and representatives from the Food and Drug Administration (FDA), National Institutes of Health (NIH), and Patient-Centered Outcomes Research Institute (PCORI).
Overall, the workshop successfully highlighted how the opportunities and challenges facing research on rare diseases are best addressed through strong partnerships among federal regulators, industry, patient communities, and clinical investigators. The workshop also provided the Foundation and its ELSI Working Group with a wealth of information that can be used to develop a clear research agenda.
The following summaries of the individual presentations were drafted by John Goodale, a science writer who attended the meeting, and rewritten or edited either by the presenters or Adam Wanner, Scientific Director of the Alpha-1 Foundation.