Personal take on this article: Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the dystrophin gene, leading to muscle degeneration and weakness. In recent years, exon skipping therapy has emerged as a promising molecular treatment. This approach uses antisense oligonucleotides (AONs) to skip specific exons during the mRNA splicing process, helping to restore the reading frame and produce a functional, albeit truncated, dystrophin protein. This …

more

      Personal take on this article: This study evaluates the safety, tolerability, and pharmacokinetics of eteplirsen in boys aged 6 to 48 months with Duchenne muscular dystrophy (DMD) amenable to exon 51 skipping. Eteplirsen, a phosphorodiamidate morpholino oligomer (PMO), is designed to restore dystrophin production. The open-label, dose-escalation trial involved 15 boys divided into two cohorts: one group aged 24 to 48 months and another aged 6 to …

more