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临床试验/NCT00457912
NCT00457912已完成不适用

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Nationwide Children's Hospital1 个研究点 分布在 1 个国家目标入组 277 人开始时间: 2005年6月最近更新:
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

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

申办方类型
Other
责任方
Principal Investigator
主要研究者

Jerry R. Mendell

DIRECTOR CENTER FOR GENE THERAPY

Nationwide Children's Hospital

研究点 (1)

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