Exon skipping is a promising therapeutic strategy for Duchenne muscular dystrophy (DMD), a severe genetic disorder. By using antisense oligonucleotides (AOs), this method aims to restore a partially functional dystrophin protein. The study conducted a systematic review and meta-analysis of five randomized controlled trials (RCTs) involving 322 participants, focusing on two drugs: eteplirsen and drisapersen. The analysis evaluated outcomes such as the 6-minute walk test (6MWT), North Star Ambulatory Assessment …

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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 …

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      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 …

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