Longitudinal Assessment and Genetic Understanding of Limb-Girdle Muscular Dystrophy
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 13
- 试验地点
- 1
- 主要终点
- Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression
研究概览
简要总结
The purpose of this study is to understand more about limb-girdle muscular dystrophy. Therefore, the investigators would like to track the following information collected once a year from patients with GENETICALLY CONFIRMED LGMD: quality of life questionnaires, muscle strength, motor function, routine examination, assessment of patient (or parent) understanding of LGMD, and serum (blood) for growth factors, cytokines, and biomarkers (all parts of your blood). By tracking this information, we hope to be able to understand more about the diagnosis, progression and natural history of this disorder.
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 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •You have a GENETICALLY CONFIRMED diagnosis of Limb Girdle Muscular Dystrophy
- •You must be at least 6 years of age or older (if under 18 you will need Parental consent)
- •You must be able to travel to the study site
- •You must be able to provide a DNA/Gene testing report that confirms a diagnosis of LGMD
排除标准
- •You or your child do not have a diagnosis of LGMD
- •Your child is under age 6
- •You or your child are not able to travel to the study site
结局指标
主要结局
Comprehensive clinical evaluation of individuals with GENETICALLY CONFIRMED LGMD, according to the study protocol, in order to evaluate disease progression
时间窗: yearly up to 10 years
次要结局
未报告次要终点