Current Therapeutic Approaches in FSHD.
Current Therapeutic Approaches in FSHD.
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DOI：
10.3233/jnd-200554
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发表时间：
2021
影响因子：
3.3
通讯作者：
Tawil R
中科院分区：
文献类型：
--
作者：
Wang LH;Tawil R
面肩肱型肌营养不良症是最常见的肌营养不良症之一。在过去的十年中，就FSHD的根本原因达成了共识，首次允许有针对性的治疗方法。FSHD是DUX4基因去抑制的毒性功能获得的结果，DUX4基因通常不在骨骼肌中表达。由于有了明确的治疗靶点，人们对FSHD的药物开发越来越感兴趣，最近在其他神经肌肉疾病中的治疗成功也引起了人们的兴趣。在此，我们回顾了FSHD的潜在疾病机制，潜在的治疗方法以及未来临床试验的计划和执行中的试验准备状态。
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common muscular dystrophies. Over the last decade, a consensus was reached regarding the underlying cause of FSHD allowing—for the first time—a targeted approach to treatment. FSHD is the result of a toxic gain-of-function from de-repression of the DUX4 gene, a gene not normally expressed in skeletal muscle. With a clear therapeutic target, there is increasing interest in drug development for FSHD, an interest buoyed by the recent therapeutic successes in other neuromuscular diseases. Herein, we review the underlying disease mechanism, potential therapeutic approaches as well as the state of trial readiness in the planning and execution of future clinical trials in FSHD.