Assessment of Systemic Delivery of rAAVrh74.MHCK7.micro-dystrophin in Children With Duchenne Muscular Dystrophy

Abstract

Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by dystrophin gene (DMD) mutations. Estimated incidence worldwide is 1 in 5000 live male births.^1,2 The DMD gene (OMIM 300377) encodes for dystrophin, a 427-kDa cytoskeletal protein required for sarcolemmal stability. Protein loss leads to susceptibility to repeated cycles of necrosis and regeneration as well as diminished regenerative muscle capacity, resulting in fat and connective tissue replacement (fibrosis).¹ DMD is progressive, beginning with loss of ambulation between age 9 and 14 years, followed by respiratory complications and cardiac function decline, and ending in death.^3-5