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在四肢腰带肌肉发症中定义临床终点:一项GRASP-LGMD研究

Amy Doody¹, Lindsay Alfano², Jordi Diaz-Manera³

¹Virginia Commonwealth University.

Research square

|October 27, 2023

概括

这项研究旨在为肢体腰带肌肉缩症 (LGMD) 患者开发可靠的临床结果评估. 经过验证的措施将改善临床试验准备和LGMD的治疗开发.

科学领域:

神经学神经学
遗传学是一个遗传学.
临床试验临床试验

背景情况:

肢体腰带肌肉发育不良 (LGMD) 包含30多种遗传突变,导致逐渐肌肉衰弱.
制定标准化临床结果评估 (COA) 对于推进LGMD研究和治疗至关重要.

研究的目的:

为广泛的LGMD表型和患者能力开发和验证临床结果评估.
确定在不同的LGMD亚型中使用统一的结果措施的可行性.

主要方法:

一项为期12个月的多中心研究,涉及188名LGMD患者在美国和欧洲的13个地点.
纳入了特定基因 (CAPN3,ANO5,DYSF,DNAJB6,SGCA,SGCB,SGCD,SGCG,FKRP) 发生突变的患者.
利用遗传分辨率和评估解决LGMD (GRASP-LGMD) 研究联盟中的表型.

主要成果:

在LGMD患者中COA的前性验证.
确定可靠,有效和响应性的临床试验结果措施.
数据将支持对LGMD治疗药物的知情临床试验决策.

结论:

验证的COA将简化LGMD治疗药物的临床试验设计.
将共享数据以支持LGMD治疗开发.
这项研究将加速为LGMD提供有效治疗的途径.

关键词:

临床结果评估临床结果评估临床试验中的临床试验.肢体腰带肌肉发育不良症肢体腰带肌肉发育不良症肌肉发育不良肌肉发育不良肌肉发育不良治疗开发的治疗方法.

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