NCT00457912已完成不适用
Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy
适应症
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 277
- 试验地点
- 1
研究概览
简要总结
The objective of this study is to identify and maintain a registry of well-characterized limb-girdle muscular dystrophy (LGMD) patients. Patients seen as part of this study may be candidates for future treatment trials based on their defined genetic classification of LGMD. In the course of this study, the investigators will perform a muscle biopsy and DNA testing in an unlimited number of patients with clinically diagnosed LGMD. The genetic testing will be extended to the family of the study subject in order to better understand true genetic defect.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •any subject with clinical diagnosis of LGMD
- •must visit Columbus Children's Hospital for 2-day study visit
- •muscle biopsy tissue must be available; either from previous biopsy, affected relative, or willing to have biopsy at Columbus Children's
排除标准
- •diagnosis of a neuromuscular disorder other than LGMD
- •unable to provide muscle tissue from previous or current biopsy
- •incapable of giving consent and not having a legal guardian willing or able to do so
研究者
Jerry R. Mendell
DIRECTOR CENTER FOR GENE THERAPY
Nationwide Children's Hospital
研究点 (1)
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