Gene Therapy for Rare Neurological Disorders

Clin Pharmacol Ther. 2022 Apr;111(4):743-757. doi: 10.1002/cpt.2543. Epub 2022 Feb 25.


There are over 7,000 diseases that are individually rare, but collectively affect millions of people worldwide. They are very commonly neurologic single-gene disorders. Recent advances in recombinant adeno-associated virus vectors have enabled breakthroughs, including US Food and Drug Administration (FDA)-approved gene therapies for inherited retinal dystrophy due to RPE65 mutation and spinal muscular atrophy. A range of other gene therapies for rare neurologic diseases are at various stages of development. Future development of gene editing technologies promises further to broaden the potential for more patients with these disorders to benefit from innovative therapies.

Publication types

  • Review

MeSH terms

  • Gene Editing
  • Genetic Therapy
  • Genetic Vectors*
  • Humans
  • Muscular Atrophy, Spinal* / genetics
  • Muscular Atrophy, Spinal* / therapy
  • Mutation