Ethical issues related to clinical research and rare diseases

Abstract

Ethical issues related to clinical research and rare diseases Executive summaryThe 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.

Stakeholder perspectives on clinical research related to therapies for rare diseases: therapeutic misconception and the value of research

“…This phenomenon is known as therapeutic misconception, which exists when clinical trial participants believe that the purpose of research is to benefit the individual rather than to generate generalizable knowledge to advance science [ 13 , 14 ] . Therapeutic misconception leads to a reluctance among some patients and caregivers to participate in studies where there is a chance they will be assigned to a placebo or control group rather than the new treatment group [ 12 , 15 ]. Coupled with small, geographically dispersed patient populations and characteristic clinical heterogeneity for many rare diseases [ 12 , 16 ], this reluctance among patients and caregivers to participate may exacerbate challenges faced by researchers to recruit adequate sample sizes for rare disease clinical studies and thus limit the conclusions that can be drawn [ 17 ].…”

Children with rare diseases: ethical, social, psychological and medical issues

“…Часто в случае не диагностированных генетических заболеваний муж обвиняет жену в передаче болезни ребенку и наоборот. Важно отметить, что при рецессивных заболеваниях, когда оба партнера являются носителями патогенной мутации, адекватный диагноз часто помогает восстановить семейные отношения [12].…”