Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials.
Outcome Measures in Facioscapulohumeral Muscular Dystrophy Clinical Trials.
复制标题
Faciosculohumeral肌肉营养不良临床试验中的结果度量。
DOI：
10.3390/cells11040687
复制
发表时间：
2022-02-16
期刊：
影响因子：
6
通讯作者：
Hayward LJ
中科院分区：
文献类型：
--
作者：
Ghasemi M;Emerson CP Jr;Hayward LJ
面肩肱型肌营养不良症 (FSHD) 是一种使人衰弱的肌营养不良症，其发病年龄、严重程度和进展情况各不相同。虽然这种疾病仍然无法治愈，但自从双同源盒 4 (DUX4) 基因表观遗传去抑制导致骨骼肌毒性的潜在机制被确定以来，FSHD 治疗的进展已经加速。这促进了针对 DUX4 表达和导致肌肉退化的下游失调的新疗法的快速开发。这些发现和临床前转化研究为等待临床试验评估的疗法开辟了新途径。随着该领域预计将进行更多 FSHD 试验，对于早期阶段以及 II 期和 III 期试验，对肌肉功能更可靠和可量化结果测量的需求不断增长。促进纵向临床评估的先进工具将极大地提高试验的潜力，以确定成功改善疾病进展或允许肌肉功能恢复的治疗方法。在这里，我们讨论当前和新兴的 FSHD 结果测量以及研究人员在将这些测量应用于 FSHD 临床试验设计和实施时可能遇到的挑战。
Facioscapulohumeral muscular dystrophy (FSHD) is a debilitating muscular dystrophy with a variable age of onset, severity, and progression. While there is still no cure for this disease, progress towards FSHD therapies has accelerated since the underlying mechanism of epigenetic derepression of the double homeobox 4 (DUX4) gene leading to skeletal muscle toxicity was identified. This has facilitated the rapid development of novel therapies to target DUX4 expression and downstream dysregulation that cause muscle degeneration. These discoveries and pre-clinical translational studies have opened new avenues for therapies that await evaluation in clinical trials. As the field anticipates more FSHD trials, the need has grown for more reliable and quantifiable outcome measures of muscle function, both for early phase and phase II and III trials. Advanced tools that facilitate longitudinal clinical assessment will greatly improve the potential of trials to identify therapeutics that successfully ameliorate disease progression or permit muscle functional recovery. Here, we discuss current and emerging FSHD outcome measures and the challenges that investigators may experience in applying such measures to FSHD clinical trial design and implementation.
登录
查看更多内容
影响因子：
3.4
作者：
Beukenhorst AL;Collins E;Burke KM;Rahman SM;Clapp M;Konanki SC;Paganoni S;Miller TM;Chan J;Onnela JP;Berry JD
通讯作者：
Berry JD
影响因子：
3.4
作者：
Celegato, Barbara;Capitanio, Daniele;Gelfi, Cecilia
通讯作者：
Gelfi, Cecilia
影响因子：
4.4
作者：
D'Angelo, M. G.;Romei, M.;Aliverti, A.
通讯作者：
Aliverti, A.
影响因子：
3.9
作者：
Banerji, Christopher R. S.;Knopp, Paul;Zammit, Peter S.
通讯作者：
Zammit, Peter S.
影响因子：
5.8
作者：
DeSimone, Alec M.;Pakula, Anna;Emerson, Charles P., Jr.
通讯作者：
Emerson, Charles P., Jr.