[Pharmacological Chaperone Therapy for Fabry Disease]

Brain Nerve. 2024 Oct;76(10):1137-1143. doi: 10.11477/mf.1416202749.
[Article in Japanese]

Abstract

Pharmacological chaperone therapy (PCT) structurally stabilizes mutant enzyme proteins and increases their activity. Although ease of oral administration and effectiveness in patients with central nervous system disorders serve as advantages, PCT is effective only for patients with amenable mutations because its efficacy depends on gene mutations. PCT, which prevents progression of Fabry cardiomyopathy and nephropathy, was approved in Japan in 2018. It is expected that PCT will also be developed for lysosomal diseases that cause central nervous system disorders in the future.

Publication types

  • Review
  • English Abstract

MeSH terms

  • Fabry Disease* / drug therapy
  • Fabry Disease* / genetics
  • Humans
  • Molecular Chaperones* / therapeutic use
  • Mutation
  • alpha-Galactosidase / genetics
  • alpha-Galactosidase / metabolism

Substances

  • alpha-Galactosidase
  • Molecular Chaperones