Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy


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.

Study Type

  • Study Type: Observational
  • Study Design
    • Time Perspective: Prospective
  • Study Primary Completion Date: January 1, 2018

Participating in This Clinical Trial

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

Gender Eligibility: All

Minimum Age: N/A

Maximum Age: N/A

Are Healthy Volunteers Accepted: No

Investigator Details

  • Lead Sponsor
    • Nationwide Children’s Hospital
  • Collaborator
    • National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
  • Provider of Information About this Clinical Study
    • Principal Investigator: Jerry R. Mendell, DIRECTOR CENTER FOR GENE THERAPY – Nationwide Children’s Hospital
  • Overall Official(s)
    • Jerry R. Mendell, M.D., Principal Investigator, The Research Institute at Nationwide Children’s Hospital

Clinical trials entries are delivered from the US National Institutes of Health and are not reviewed separately by this site. Please see the identifier information above for retrieving further details from the government database.

At, we keep tabs on over 200,000 clinical trials in the US and abroad, using medical data supplied directly by the US National Institutes of Health. Please see the About and Contact page for details.