IQVIA, Durham, North Carolina, 27703, USA.
Consultant, Durham, NC, USA.
Ther Innov Regul Sci. 2020 Jan;54(1):144-150. doi: 10.1007/s43441-019-00038-w. Epub 2020 Jan 6.
Facioscapulohumeral muscular dystrophy (FSHD) is a complex, inheritable, and rare muscle disease that affects the entire body. The major symptom of FSHD is progressive weakening and loss of skeletal muscles. The usual location of these weaknesses at onset is the origin of the name: face (facio), shoulder girdle (scapulo), and upper arms (humeral). FSHD appears to have varying molecular and genetic determinants with commensurate differences in disease progression.
Facioscapulohumeral muscular dystrophy (MD) is probably the most prevalent form of MD but has neither disease-modifying treatments nor a cure. As the mechanism of action becomes further elucidated, more biopharmaceutical companies are investing capital into finding treatments for patients with FSHD. Sponsors of treatments for FSHD patients should be aware of some of the common misconceptions associated with FSHD drug development with the goal of optimizing the chance to prove safety and efficacy for each potential treatment for FSHD in the clinical trial setting.
Four major topics with potential clinical manifestations for patients with FSHD will be discussed related to muscle weakness, respiratory issues, animal models and prevalence.
The authors offer multiple solutions to help counteract misconceptions with each scenario during clinical trial drug development.
面肩肱型肌营养不良症（FSHD）是一种复杂的、遗传性的罕见肌肉疾病，会影响全身。FSHD 的主要症状是进行性的骨骼肌无力和丧失。这些弱点的通常起始位置是疾病名称的由来：面（脸，facio）、肩带（肩胛，scapulo）和上臂（肱骨，humeral）。FSHD 似乎具有不同的分子和遗传决定因素，疾病进展也存在相应差异。
面肩肱型肌营养不良症（MD）可能是 MD 最常见的形式，但既没有疾病修饰治疗方法，也没有治愈方法。随着作用机制的进一步阐明，越来越多的生物制药公司正在投资寻找 FSHD 患者的治疗方法。治疗 FSHD 患者的赞助商应该了解一些与 FSHD 药物开发相关的常见误解，目标是优化每个潜在 FSHD 治疗方法在临床试验中的安全性和疗效证明机会。
将讨论与肌肉无力、呼吸问题、动物模型和患病率相关的四个可能具有临床意义的 FSHD 患者主要话题。
作者提供了多种解决方案，以帮助在临床试验药物开发期间的每种情况下纠正误解。
