Exon-Skipping in Duchenne Muscular Dystrophy

J Neuromuscul Dis. 2021;8(s2):S343-S358. doi: 10.3233/JND-210682.

Abstract

Duchenne muscular dystrophy (DMD) is a devastating, rare disease. While clinically described in the 19th century, the genetic foundation of DMD was not discovered until more than 100 years later. This genetic understanding opened the door to the development of genetic treatments for DMD. Over the course of the last 30 years, the research that supports this development has moved into the realm of clinical trials and regulatory drug approvals. Exon skipping to therapeutically restore the frame of an out-of-frame dystrophin mutation has taken center stage in drug development for DMD. The research reviewed here focuses on the clinical development of exon skipping for the treatment of DMD. In addition to the generation of clinical treatments that are being used for patient care, this research sets the stage for future therapeutic development with a focus on increasing efficacy while providing safety and addressing the multi-systemic aspects of DMD.

Publication types

  • Review

MeSH terms

  • Dystrophin
  • Exons / genetics*
  • Genetic Therapy / methods*
  • Humans
  • Muscular Dystrophy, Duchenne / therapy*
  • Mutation
  • Oligonucleotides, Antisense / therapeutic use

Substances

  • DMD protein, human
  • Dystrophin
  • Oligonucleotides, Antisense