Development of a Clinical AAV-Based Vector Encoding a Microdystrophin Transgene for the Treatment of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a recessively-inherited muscle wasting disorder caused by mutations within the dystrophin gene. Gene therapy using adeno-associated viral (AAV) vectors to deliver dystrophin expression cassettes remains a promising treatment option that would be applicable to all patients regardless of their underlying genetic mutation. We have previously shown that highly truncated dystrophins can significantly ameliorate the dystrophic phenotype in small and large animal models of DMD following delivery with recombinant AAV vectors. The data suggest that the optimized microdystrophin cassette is promising for use in human clinical trials of gene therapy for DMD.