Developments in the treatment of Fabry disease.,Journal of Inherited Metabolic Disease

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Developments in the treatment of Fabry disease.
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-02-21 , DOI: 10.1002/jimd.12228
Sanne J van der Veen ₁ , Carla E M Hollak ₁ , André B P van Kuilenburg ₂ , Mirjam Langeveld ₁

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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.

中文翻译：

法布里病的治疗进展。

使用重组 α-半乳糖苷酶 A (r-αGAL A) 的酶替代疗法 (ERT) 用于治疗法布里病已超过 15 年。长期治疗可能会减缓疾病进展，但大多数患者仍会出现心脏、肾脏和脑部并发症。此外，终生静脉治疗是繁重的。因此，在过去十年中已经探索了几种新的治疗方法。伴侣疗法（米加司他；1-脱氧半乳糖野尻霉素）是目前唯一获批的法布里病疗法。这种口服小分子旨在提高突变的α-半乳糖苷酶A的酶活性，只能用于具有特定突变的患者。目前正在（前）临床试验中评估的治疗方法是第二代酶替代疗法（Pegunigalsidase-alfa、Moss-aGal），底物减少疗法（Venglustat 和 Lucerastat）、基于 mRNA 和基因的疗法。本综述总结了目前治疗法布里病的可用和潜在未来选择的知识。

更新日期：2020-02-21

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