Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), Type 2C (LGMD2C/R5), and Type 2A (LGMD2A/R1)
试验速览
- 阶段
- 不适用
- 状态
- 进行中（未招募）
- 入组人数
- 205
- 试验地点
- 26
- 主要终点
- Time of 10-Meter Walk/Run [10MWR]
研究概览
简要总结
This study will follow participants who are screened and confirmed with a genetic diagnosis of Limb-girdle muscular dystrophy type 2E (LGMD2E/R4), Limb-girdle muscular dystrophy type 2D (LGMD2D/R3), Limb-girdle muscular dystrophy type 2C (LGMD2C/R5), or Limb-girdle muscular dystrophy type 2A (LGMD2A/R1).
These enrolled participants will be followed to evaluate mobility and pulmonary function for up to 5 years after enrollment for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a North Star Assessment for Dysferlinopathy (NSAD) ≥ 25 at Baseline, up to 3 years for participants with LGMD2C/R5, LGMD2D/R3, and LGMD2E/R4 with a NSAD < 25 at Baseline, and up to 3 years for participants with LGMD2A/R1. Additional participant data will be collected from the time the individual began experiencing LGMD symptoms to the present.
详细描述
LGMD Type 2A, 2C, and 2D cohorts are now closed. Enrollment in the LGMD Type 2E cohort is closed and participants will be followed for up to five years.
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
- 4 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female participant ≥ 4 years of age who demonstrate symptoms of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1 in the opinion of the investigator (eg, muscle weakness, loss of function, delayed milestones).
- •Confirmed clinical and genetic diagnosis of LGMD2E/R4, LGMD2D/R3, LGMD2C/R5, or LGMD2A/R1.
排除标准
- •Demonstrates cognitive delay or impairment that could confound motor development, in the opinion of the Investigator.
- •Has a medical condition, in the opinion of the Investigator, that might compromise participants ability to comply with study requirements.
- •Is participating in other interventional study(ies) at the time of enrollment in this study.
结局指标
主要结局
Time of 10-Meter Walk/Run [10MWR]
时间窗: Baseline up to Month 60
Time to Ascend 4 Steps
时间窗: Baseline up to Month 60
Ankle Range of Motion (ROM)
时间窗: Baseline up to Month 60
Dimension of the Performance of the Upper Limb (PUL)
时间窗: Baseline up to Month 60
Timed Up and Go (TUG)
时间窗: Baseline up to Month 60
Time of 100-Meter Walk/Run (100MWR)
时间窗: Baseline up to Month 60
Pulmonary Function Test: Forced Vital Capacity (FVC)
时间窗: Baseline up to Month 60
NSAD Total Score
时间窗: Baseline up to Month 60
Time to Rise from the Floor
时间窗: Baseline up to Month 60
次要结局
未报告次要终点