Orphan drugs and rare diseases: a multifaceted story

摘要

An orphan disease is a rare disease with a very low prevalence. In the EU, rare diseases are defined as life-threatening or chronically debilitating diseases that have a prevalence of 50 out of 100,000 individuals or less [1]. Due to their low prevalence, rare diseases have traditionally been neglected by industry and by the scientific, medical and political communities. It is estimated that there are currently between 5,000 and 7,000 rare diseases [2]. With less than 60 orphan drugs, i.e. drugs developed to treat rare diseases, on the European market, (for details see the paper from Dr Butlen-Sucuing and Dr Tsigkos, pages 19-20 in this issue of EJHP Practice) only a small part of the treatment need for rare diseases is covered.