Mutation-Based Therapy for Duchenne Muscular Dystrophy
Antisense Treatment Arrives in the Clinic
This article requires a subscription to view the full text. If you have a subscription you may use the login form below to view the article. Access to this article can also be purchased.
Duchenne muscular dystrophy (DMD) arises from mutations in the dystrophin gene. The dystrophin gene is composed of 79 exons, and the majority of mutations in DMD are deletions, often spanning multiple exons.1 In 2016, the US Food and Drug Administration (FDA) granted accelerated approval for eteplirsen (Exondys51), an antisense oligonucleotide compound designed to block exon 51 of dystrophin to restore the reading frame in patients with DMD with specific mutations (Figure, A).2 This treatment is directed at ≈10% to 15% of patients with DMD (≈1500 treatment-eligible individuals). The approval of eteplirsen is game changing for the field of molecular gene correction. However, its approval was viewed as controversial because of the unconventional clinical trial data and limited efficacy.