Prospective, Longitudinal Study of the Natural History and Functional Status of Patients With Limb-Girdle Muscular Dystrophy 2I
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- Genethon
- 入组人数
- 52
- 试验地点
- 3
- 主要终点
- 6-Minute Walk Test
研究概览
简要总结
Prospective, longitudinal, interventional, single-group, multicenter natural history study to better know the LGMD2I disease physiopathology. The duration of participation for each patient will be up to 24 months.
详细描述
Study duration Duration from First visit of first patient (FPFV) to Last visit of last patient (LPLV) : 3 years
Study objectives Primary objective:
To characterize the disease course in Limb-Girdle Muscular Dystrophy 2I (LGMD2I) patients using standardized and disease appropriate evaluations.
Secondary objectives:
To identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2I To identify the best outcome measure for further therapeutics approaches
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 16 Years 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Female and male patients
- •Patients ≥ 16 years old
- •Clinical diagnosis of LGMD2I and gene testing demonstrating two pathogenic mutations in fukutin-related protein gene, FKRP)
- •Ambulant patients
排除标准
- •1. Patients presenting other disease which may significantly interfere with the interpretation of LGMD2I natural history
结局指标
主要结局
6-Minute Walk Test
时间窗: Baseline through 24 months
Primary endpoint
10-Meter Walk test (10MWT)
时间窗: Baseline through 24 months
Primary endpoint
Timed Up and Go (TUG) test
时间窗: Baseline through 24 months
Primary endpoint
Four-stair climb test
时间窗: Baseline through 24 months
Primary endpoint
Recording of aids for ambulation
时间窗: Baseline through 24 months
Primary endpoint
North Star Assessment for Neuromuscular Disorders (NSAD)
时间窗: Baseline through 24 months
Scale to assess patient's abilities necessary to remain functionnaly ambulant
Upper limb assessment via the Performance of the Upper Limb (PUL) tool version 2.0
时间窗: Baseline through 24 months
Primary endpoint
Isokinetic muscle testing using the Biodex System (optional)
时间窗: Baseline through 24 months
Primary endpoint
Pulmonary function test
时间窗: Baseline through 24 months
Primary endpoint
Electrocardiogram
时间窗: Baseline through 24 months
Presence of cardiac abnormalities or any ventricular extrasystoles will be investigated
Echocardiography
时间窗: Baseline through 24 months
Cardiac dimensions will be measured to investigate the presence of any dilated cardiomyopathy
次要结局
未报告次要终点