Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT00457912

Enrollment

277

Registered

2007-04-09

Start date

2005-06-30

Completion date

2018-01-01

Last updated

2018-01-25

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Limb-Girdle Muscular Dystrophy

Brief summary

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.

Interventions

None listed

Study design

Observational model

CASE_ONLY

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

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

Countries

United States

Outcome results