PDF(Pubmed)
Abstract：
UNASSIGNED: The Limb Girdle Muscular Dystrophies (LGMDs) are characterized by progressive weakness of the shoulder and hip girdle muscles as a result of over 30 different genetic mutations. This study is designed to develop clinical outcome assessments across the group of disorders.
UNASSIGNED: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes. We will perform a multi-center, 12-month study of 188 LGMD patients within the established Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Research Consortium, which is comprised of 11 sites in the United States and 2 sites in Europe. Enrolled patients will be clinically affected and have mutations in CAPN3 (LGMDR1), ANO5 (LGMDR12), DYSF (LGMDR2), DNAJB6 (LGMDD1), SGCA (LGMDR3), SGCB (LGMDR4), SGCD (LGMDR6), or SGCG (LGMDR5, or FKRP-related (LGMDR9).
UNASSIGNED: To the best of our knowledge, this will be the largest consortium organized to prospectively validate clinical outcome assessments (COAs) in LGMD at its completion. These assessments will help clinical trial readiness by identifying reliable, valid, and responsive outcome measures as well as providing data driven clinical trial decision making for future clinical trials on therapeutic agents for LGMD. The results of this study will permit more efficient clinical trial design. All relevant data will be made available for investigators or companies involved in LGMD therapeutic development upon conclusion of this study as applicable.
UNASSIGNED: clinicaltrials.gov NCT03981289; Date of registration: 6/10/2019.
UNASSIGNED: The primary goal of this study is to evaluate the utility of a set of outcome measures on a wide range of LGMD phenotypes and ability levels to determine if it would be possible to use similar outcomes between individuals with different phenotypes. We will perform a multi-center, 12-month study of 188 LGMD patients within the established Genetic Resolution and Assessments Solving Phenotypes in LGMD (GRASP-LGMD) Research Consortium, which is comprised of 11 sites in the United States and 2 sites in Europe. Enrolled patients will be clinically affected and have mutations in CAPN3 (LGMDR1), ANO5 (LGMDR12), DYSF (LGMDR2), DNAJB6 (LGMDD1), SGCA (LGMDR3), SGCB (LGMDR4), SGCD (LGMDR6), or SGCG (LGMDR5, or FKRP-related (LGMDR9).
UNASSIGNED: To the best of our knowledge, this will be the largest consortium organized to prospectively validate clinical outcome assessments (COAs) in LGMD at its completion. These assessments will help clinical trial readiness by identifying reliable, valid, and responsive outcome measures as well as providing data driven clinical trial decision making for future clinical trials on therapeutic agents for LGMD. The results of this study will permit more efficient clinical trial design. All relevant data will be made available for investigators or companies involved in LGMD therapeutic development upon conclusion of this study as applicable.
UNASSIGNED: clinicaltrials.gov NCT03981289; Date of registration: 6/10/2019.
摘要：
背景技术由于超过30种不同的遗传突变,四肢带肌营养不良(LGMD)的特征在于肩部和臀部带肌的进行性无力。本研究旨在对该组疾病进行临床结果评估。方法/设计：这项研究的主要目标是评估一组结果测量对各种LGMD表型和能力水平的实用性，以确定是否可以在具有不同表型的个体之间使用相似的结果。我们将执行多中心，在已建立的遗传分辨率和评估中对188名LGMD患者进行了为期12个月的研究，以解决LGMD（GRASP-LGMD）研究联盟的表型，它由美国的11个站点和欧洲的2个站点组成。登记的患者将在临床上受到影响，并且在CAPN3（LGMDR1）中有突变，ANO5(LGMDR12),DYSF(LGMDR2),DNAJB6(LGMDD1),SGCA(LGMDR3)，SGCB(LGMDR4),SGCD(LGMDR6),或SGCG（LGMDR5或FKRP相关（LGMDR9）。讨论就我们所知,这将是组织的最大的联盟，以前瞻性验证LGMD的临床结果评估（COA）完成。这些评估将通过确定可靠的临床试验，有效,和响应性结果指标，并为未来LGMD治疗剂的临床试验提供数据驱动的临床试验决策。这项研究的结果将允许更有效的临床试验设计。在本研究结束后，所有相关数据将适用于参与LGMD治疗开发的研究人员或公司。试用注册：clinicaltrials.govNCT03981289；注册日期：2019年6月10日。
