K K Jain MD (Dr. Jain is a consultant in neurology and has no relevant financial relationships to disclose.)
Originally released October 7, 2016; last updated September 29, 2020; expires September 29, 2023

Historical note and terminology

Eteplirsen is an antisense-mediated exon skipping therapy for mutation suppression in Duchenne muscular dystrophy. Drisapersen, which has a similar mechanism of action, failed in phase 3 clinical trials followed by discontinuation of further development, but eteplirsen was granted accelerated approval by the U.S. Food and Drug Administration in 2016 for treatment of some forms of Duchenne muscular dystrophy. Approval under an accelerated pathway can be based on adequate and well-controlled clinical trials showing that the drug affects a surrogate endpoint that is reasonably likely to predict clinical benefit to patients. This pathway provides earlier patient access to promising new drugs while the manufacturer conducts clinical trials to verify the predicted clinical benefit. Early-stage development of this drug started 20 years earlier and was supported by the Muscular Dystrophy Association. There is some controversy about the FDA's approval of this drug as some critics have used terms like “lowering the bar” to approve “an expensive placebo.” Eteplirsen initially costs $300,000 to $400,000 per year per patient. Several insurance companies have already approved coverage of eteplirsen. Two years after approval by the U.S. Food and Drug Administration, the Committee for Human Medicinal Products of the European Medicines Agency gave a negative opinion for eteplirsen treatment, and it was not approved in Europe (Aartsma-Rus and Goemans 2019).

In December 2019 the U.S. Food and Drug Administration conditionally approved golodirsen (Vyondys 53), another exon-skipping therapy given by intravenous infusion designed to mask the mutated exon 53 in the mRNA produced from the DMD gene, to generate a shorter but working version of dystrophin. It will increase the number of patients to be treated with exon-skipping therapy, as approximately 8% of all Duchenne muscular dystrophy patients have mutations in this exon. The cost will be the same as that of eteplirsen. The ongoing clinical trial ESSENCE (NCT02500381) is now a postmarketing confirmatory trial, which is required under conditional approval.

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