AI Article Synopsis
- Enzyme replacement therapy (ERT) with recombinant α-galactosidase A has been used for over 15 years to treat Fabry disease, but many patients still experience serious complications despite the treatment.
- A new oral treatment, chaperone therapy (Migalastat), is only approved for patients with specific mutations and works by enhancing the activity of the mutated enzyme.
- Research is ongoing for additional therapies, including second-generation ERTs and substrate reduction therapies, as well as promising mRNA and gene-based treatments, which may provide new options for patients in the future.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7540041 | PMC |
| http://dx.doi.org/10.1002/jimd.12228 | DOI Listing |
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