AAV micro-dystrophin gene therapy

AAV micro-dystrophin gene therapy is a class of viral vector-based treatments designed for Duchenne muscular dystrophy (DMD). DMD is caused by mutations in the *DMD* gene, which encodes the dystrophin protein essential for muscle membrane stability. Because the full-length dystrophin cDNA (~14 kb) exceeds the packaging capacity of adeno-associated virus (AAV) vectors (~4.7 kb), these therapies utilize a truncated 'micro-dystrophin' transgene containing essential functional domains. The therapy typically involves a single intravenous infusion of a recombinant AAV (e.g., AAVrh74, AAV9) carrying the micro-dystrophin transgene under the control of a muscle-specific promoter. The goal is to restore a functional, albeit shortened, version of dystrophin at the sarcolemma to improve muscle function and slow disease progression. Sarepta Therapeutics' Elevidys (delandistrogene moxeparvovec) is the first approved product in this class.

Other names

micro-dystrophin gene transferAAV-delivered micro-dystrophin