A Prospective Longitudinal Study of Natural History and Functional Status of Patients With Gamma-sarcoglycanopathy (LGMDR5)
试验速览
- 阶段
- 不适用
- 状态
- 撤回
- 入组人数
- 50
- 试验地点
- 3
- 主要终点
- Timed Up and Go (TUG)
研究概览
简要总结
Prospective, longitudinal, interventional, multicenter natural history study to better understand the LGMDR5/2c 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. Each patient will have a visit every 6 months over 2 years (5 visits in total).
Study primary objective is to characterize the disease course in gamma-sarcoglycanopathy (LGMDr5/2c) patients using standardized and disease appropriate evaluations.
Secondary objectives are to identify clinical, imaging and/or laboratory parameters that are indicators of the disease course in LGMD2c and 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
- 6 Years 至 35 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male and female patients 6 to less than 35 years of age
- •Ambulant patients should be less than 12 years of age and able to walk/run 10 meters (item 29 of NSAD) in less than 15 sec
- •Confirmed diagnosis of LGMDR5 (genotyping)
- •FVC > 40%
排除标准
- •Subjects with co-morbidity which may interfere with LGMDR5 natural evolution and/or evaluation of outcome measures
- •Need of non-invasive ventilation > 16h per 24h or any invasive ventilation
- •Left ventricular ejection fraction (LVEF) < 30% or prior heart failure decompensation requiring hospitalization
- •Past participation in a gene therapy or cell therapy trial
结局指标
主要结局
Timed Up and Go (TUG)
时间窗: Baseline through 24 months
Change from baseline in time to complete TUG
100-meter walk/run test (100MWT)
时间窗: Baseline through 24 months
Change from baseline in time to complete 100MWT
Performance of Upper Limb (PUL)
时间窗: Baseline through 24 months
Change from baseline in PUL score (with a score range from 0 to 42, the higher the score the better the ability)
North Star Assessment for Neuromuscular Disorders (NSAD)
时间窗: Baseline through 24 months
Change from baseline in NSAD score (with a score range from 0 to 54, the higher the score the better the ability)
次要结局
- Change from baseline in Activlim score(Baseline through 24 months)
- Forced Vital Capacity (FVC)(Baseline through 24 months)
- Muscle MRI(Baseline though 24 months)