A Multicenter Phenotype-Genotype Analysis of Limb Girdle Muscular Dystrophy Patients in China
试验速览
- 阶段
- 不适用
- 状态
- Enrolling By Invitation
- 入组人数
- 450
- 试验地点
- 1
- 主要终点
- Changes in NSAA score
研究概览
简要总结
Limb-girdle muscular dystrophies (LGMD) are a series of rare progressive genetic disorders that are characterized by wasting and weakness of the voluntary proximal muscles. The onset of the disease is usually at young age, and most patients will be wheelchair-bound due to the progressive deterioration. Since currently genetic therapies for this disease are still immature, better natural history and genotype-phenotype studies are needed for preparing future therapies.
详细描述
This is multicentered-based, prospective, and observational study, which mainly focuses on the diagnosis and progression of limb-girdle muscular dystrophies (LGMD) in China. the investigators collect patient data including basic information, strength evaluations, genetic data, electromyography results, pathology imaging from muscle biopsies, and MRIs. Previously collected patient data may also be enrolled in this study.
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
- 10 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Identified with variants regarding LGMD related genes revealed by genetic sequencing
- •Progressive weakness involving shoulder girdle and/or pelvic girdle
- •Myopathic changes in electromyography or in pathological studies
排除标准
- •Identified with variants in other genes (non-LGMD related) that may cause muscular dystrophies
结局指标
主要结局
Changes in NSAA score
时间窗: Baseline, Year 1, Year 3, Year 5
The North Star Ambulatory Assessment (NSAA) is a 17-item rating scale with a score range of 0-34. It is used to measure the functional motor abilities of ambulant patients with muscular dystrophy. A lower NSAA score indicates more severe damage to the participant's motor capability.
次要结局
- Changes in muscle fat infiltration(Baseline, Year 3, Year 5)
- Changes in 10 Metre Walk Test (10MWT)(Baseline, Year 3, Year 5)
- Changes in 6 Minute Walk Test(Baseline, Year 3, Year 5)