Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Nationwide Children's Hospital

Status: Completed

Conditions: Limb-Girdle Muscular Dystrophy

Study type: Observational

Funder types: Other; NIH

Identifiers

NCT00457912

IRB05-00101

NIH Grant U54AR050733

Details and patient eligibility

About

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.

Enrollment: 277 patients

Sex: All

Volunteers: No Healthy Volunteers

Inclusion criteria

• 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

Exclusion criteria

• 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