T.P.1.02 Importance of checking exon skipping events prior to clinical trials using systemically delivered antisense morpholino in Duchenne muscular dystrophy patients

Abstract

Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are caused by abnormalities of the dystrophin gene. DMD, which manifests into a severe muscle weakness phenotype, results from an out-of-frame deletion(s) in the dystrophin gene. In contrast, BMD, which results from an in-frame deletion(s) in the dystrophin gene, causes a milder muscle weakness. Antisense-mediated exon skipping, which changes out-of-frame deletions to in-frame ones, is a very promising therapeutic approach for DMD.