AAV-CAPN3 gene therapy

AAV-CAPN3 gene therapy is an investigational biologic designed to treat limb-girdle muscular dystrophy type 2A (LGMD2A), also known as LGMDR1. This condition is an autosomal recessive muscle-wasting disorder caused by mutations in the *CAPN3* gene, which encodes the calpain-3 protease essential for maintaining muscle fiber integrity. The therapy utilizes an adeno-associated virus (AAV) vector to deliver a functional human *CAPN3* cDNA sequence to skeletal muscle cells. Different programs utilize various vector serotypes and promoters; for instance, Sarepta Therapeutics' SRP-9006 uses the AAVrh74 vector with a muscle-specific tMCK promoter, while academic research at UCLA has explored the AAVMyo vector with an engineered RC3 promoter. By restoring calpain-3 expression and activity, the therapy aims to improve muscle physiology, mitochondrial function, and functional outcomes in patients with LGMD2A.

Other names

AAV-CAPN3AAV-CAPN-3AAV-CAPN 3CAPN3 gene therapyCAPN-3 gene therapyCAPN 3 gene therapy