eteplirsen

Eteplirsen is a medication used to treat Duchenne muscular dystrophy (DMD). It is an antisense oligonucleotide that works by targeting the dystrophin gene. Specifically, eteplirsen is designed to promote the skipping of exon 51 in the dystrophin gene. This modification can lead to the production of a shorter, but still functional, version of the dystrophin protein in individuals with certain types of mutations in the dystrophin gene. Dystrophin is a protein essential for muscle strength and function, and its absence or deficiency is the underlying cause of DMD.

The drug is administered intravenously. Clinical trials have demonstrated that eteplirsen can increase dystrophin protein levels in muscle tissue of eligible patients. It is approved for use in patients with DMD who have a confirmed mutation amenable to exon 51 skipping. While eteplirsen does not cure DMD, it is intended to slow disease progression and maintain muscle function. Side effects can include reactions at the infusion site, pneumonia, and vomiting. The long-term effects and efficacy of eteplirsen are still being studied.