This study evaluates AAV9-U7 exon skipping therapy in the Dup2 mouse model of Duchenne muscular dystrophy (DMD). A single injection in adults restored up to 95% exon skipping, improving muscle structure and function. Neonatal treatment achieved 99% dystrophin-positive fibers and near-complete disease correction over six months. Findings suggest AAV9-based exon skipping provides long-lasting dystrophin restoration, supporting its potential as a clinical therapy for DMD exon 2 duplications.

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This study investigates how voluntary exercise impacts AAV-U7-mediated exon skipping therapy in D2-mdx mice with Duchenne muscular dystrophy (DMD). Exercise did not worsen muscle damage or reduce viral genome expression, though dystrophin-positive muscle area declined from 80% to 65%. Despite this, gene therapy remained effective, and muscle strength improved. Findings suggest exercise can be integrated into DMD treatments without major therapy disruption, though long-term effects need further study.

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The Phase 3 EMBARK trial investigates AAV gene therapy (delandistrogene moxeparvovec) for Duchenne muscular dystrophy (DMD). The study assessed improvements in motor function, micro-dystrophin expression, and timed motor tests over 52 weeks. While the therapy showed some positive results, the primary outcome (North Star Ambulatory Assessment) did not reach statistical significance. Most side effects were mild, with a few serious cases resolved without fatal outcomes. The findings suggest AAV gene therapy is promising but requires further validation in future trials.

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