Duchenne muscular dystrophy (DMD) is a genetically inherited neuromuscular disease that almost entirely affects boys and results in a progressive loss of muscle function, resulting in progressive weakness and eventual death usually from cardiac and respiratory failure. It is the most common pediatric muscular dystrophy with a prevalence of one in 3,500 – 5,000 live male births, or about 400 to 600 boys per year in the US.
Treatments of Interest:
- deflazacort (Emflaza®, PTC Therapeutics)
- Two exon-skipping therapies: eteplirsen (Exondys 51®, Sarepta) and golodirsen (Sarepta).
Eteplirsen was approved by the FDA in September 2016 for patients with a confirmed mutation in the dystrophin gene that is amenable to exon 51 skipping. Sarepta has announced its intention to file for accelerated approval of golodirsen by the end of 2018.
Below you will find the final documents from the assessment review process: