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.

more

This open-label study evaluates casimersen and golodirsen in DMD patients with rare single exon duplications (exon 45 or 53). Over 48 weeks, dystrophin levels increased from 0.94% to 5.1%, with dystrophin-positive fibers rising from 14% to 50%. RT-PCR confirmed exon skipping, while pulmonary and cardiac functions remained stable. No major safety concerns emerged, but longer trials with larger cohorts are needed to assess long-term clinical benefits. These findings highlight exon skipping as a targeted therapy for rare DMD mutations.

more