Developments in the treatment of Fabry disease. Issue 5 (2nd March 2020)

• Record Type: Journal Article
• Authors: van der Veen, Sanne J.; Hollak, Carla E. M.; van Kuilenburg, André B. P.; Langeveld, Mirjam
• Is Part Of: Journal of inherited metabolic disease. Volume 43:Issue 5(2020)
• Page Start: 908
• Page End: 921
• Publication Date: 2020-03-02
• Subjects: chaperone therapy -- enzyme replacement therapy (ERT) -- Fabry disease -- gene therapy -- substrate reduction therapy (SRT) -- treatment; Metabolism, Inborn errors of -- Periodicals; Metabolism -- Disorders -- Periodicals; 616.39042
• DOI: 10.1002/jimd.12228
• Languages: English
• ISSNs: 0141-8955

Abstract

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. Abstract :