Duchenne muscular dystrophy (DMD) is the most common form of childhood muscular dystrophies. DMD manifests as muscle degeneration and weakness, and it is histologically characterized by features such as reduction in muscle fiber size and degeneration as well as presence of connective tissue and fat instead of muscle. DMD progresses quickly and can lead to loss of ambulation in the early teenage years and subsequent early mortality. Before the conditional approval of ataluren (PTC Therapeutics’ Translarna) in Europe in August 2014, glucocorticoid treatment was the only available treatment for DMD patients. The launch of ataluren for the treatment of DMD stemming from nonsense mutations in the dystrophin gene signals a new era of disease-modifying therapies (DMTs) for DMD, as eteplirsen (Sarepta Therapeutics) and agents earlier in development from Sarepta, which also target the underlying cause of DMD, may become available in the near future.

Author(s): Matthew Mackenzie