Rare diseases and orphan drugs

Rare diseases and orphan drugs, Irena Melnikova, Nature Reviews Drug Discovery 11, 267-268 (April 2012) | doi:10.1038/nrd3654

It is now widely recognized that rare diseases provide attractive niche opportunities for biopharmaceutical companies

Since 1983 when the Orphan Drug Act (ODA) was approved in the United States to promote the development of treatments for rare diseases more than 2,500 small molecules and biologics have been designated as orphan drugs, and currently, for a wide variety of rare diseases there are 460 medicines in clinical trials. The economic incentives for the industry, such as 7 years of market exclusivity, tax credits for certain development costs and application fee waivers helped to get this success, Japan, Australia and the European Union health autorities also worked in the same direction.

Over 80% of rare diseases are genetic in origin, they need a very different aproach, major strategies include: enzyme replacement, gene therapy or manipulation of gene expression.