Ethical issues related to clinical research and rare diseases

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 partic-ipants. 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.