1. Developments in the treatment of Fabry disease.
- Author
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van der Veen SJ, Hollak CEM, van Kuilenburg ABP, and Langeveld M
- Subjects
- 1-Deoxynojirimycin analogs & derivatives, 1-Deoxynojirimycin therapeutic use, Enzyme Replacement Therapy, Fabry Disease genetics, Fabry Disease metabolism, Genetic Therapy, Humans, Molecular Chaperones therapeutic use, Mutation, alpha-Galactosidase therapeutic use, Fabry Disease drug therapy
- Abstract
Enzyme replacement therapy (ERT) with recombinant α-galactosidase A (r-αGAL A) for the treatment of Fabry disease has been available for over 15 years. Long-term treatment may slow down disease progression, but cardiac, renal, and cerebral complications still develop in most patients. In addition, lifelong intravenous treatment is burdensome. Therefore, several new treatment approaches have been explored over the past decade. Chaperone therapy (Migalastat; 1-deoxygalactonojirimycin) is the only other currently approved therapy for Fabry disease. This oral small molecule aims to improve enzyme activity of mutated α-galactosidase A and can only be used in patients with specific mutations. Treatments currently under evaluation in (pre)clinical trials are second generation enzyme replacement therapies (Pegunigalsidase-alfa, Moss-aGal), substrate reduction therapies (Venglustat and Lucerastat), mRNA- and gene-based therapy. This review summarises the knowledge on currently available and potential future options for the treatment of Fabry disease., (© 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
- Published
- 2020
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