Genetic therapies for inherited neuromuscular disorders

Mariacristina Scoto, Richard Finkel, Eugenio Mercuri, Francesco Muntoni

Research output: Contribution to journalReview article

Abstract

Inherited neuromuscular disorders encompass a broad group of genetic conditions, and the discovery of these underlying genes has expanded greatly in the past three decades. The discovery of such genes has enabled more precise diagnosis of these disorders and the development of specific therapeutic approaches that target the genetic basis and pathophysiological pathways. Such translational research has led to the approval of two genetic therapies by the US Food and Drug Administration: eteplirsen for Duchenne muscular dystrophy and nusinersen for spinal muscular atrophy, which are both antisense oligonucleotides that modify pre-mRNA splicing. In this Review we aim to discuss new genetic therapies and ongoing clinical trials for Duchenne muscular dystrophy, spinal muscular atrophy, and other less common childhood neuromuscular disorders.

Original languageEnglish
Pages (from-to)600-609
Number of pages10
JournalThe Lancet Child and Adolescent Health
Volume2
Issue number8
DOIs
Publication statusPublished - Aug 1 2018

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Developmental and Educational Psychology

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