A Note from the Editor: Duchenne Muscular Dystrophy, Genetics, the FDA and Drug Pricing.

Abstract

DMD is a muscle-wasting disease. It is caused by mutations in the dystrophin gene which is found on the X chromosome. It has an X-linked recessive inheritance pattern and is passed on by the mother (carrier). It is a progressive disease that usually causes death in early adulthood-often in the 20s, although there have been improvements in treatment, so some patients make it into their 30s and occasionally 40s. In addition to the muscle wasting aspects, serious complications include heart or respiratory-related problems. It mostly affects boys, about 1 in every 3,500 or 5,000 male children. On September 19, 2016, the FDA approved Sarepta Therapeutics (SRPT)'s eteplirsen, which now goes by the trade name Exondys 51, to treat DMD. It is the first drug to be approved to treat the underlying causes of the disease. [http://www.biospace.com/News/victory-at-last-sarepta-stock-doublesas-the-fda/432777].