Eteplirsen

Eteplirsen is a synthetic antisense oligonucleotide and a phosphorodiamidate morpholino oligomer. It consists of a six-membered morpholino ring replacing the five-membered ribofuranosyl rings found in natural DNA and RNA.

Duchenne muscular dystrophy is a rare genetic disorder characterized by progressive muscle deterioration and premature death most commonly due to respiratory or cardiac complications. It is caused by loss-of-function mutations in the DMD gene coding for dystrophin, an essential protein involved in maintaining the structural integrity and function of muscle fibres. Eteplirsen was first approved by the FDA in September 2016 for the treatment of Duchenne muscular dystrophy (DMD) in patients with a confirmed mutation of the DMD gene, which codes for dystrophin, that is amenable to exon 51 skipping. Eteplirsen directly works on the DMD gene to promote dystrophin production. Eteplirsen was the first treatment for DMD approved by the FDA.