Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

This study is ongoing, but not recruiting participants.
Muscular Dystrophy Association
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital Identifier:
First received: April 6, 2007
Last updated: February 2, 2015
Last verified: February 2015

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.

Limb-Girdle Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Resource links provided by NLM:

Further study details as provided by Nationwide Children's Hospital:

Biospecimen Retention:   Samples With DNA

whole blood, muscle tissue

Estimated Enrollment: 500
Study Start Date: June 2005

Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population

any subject with clinical diagnosis of LGMD


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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00457912

United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Nationwide Children's Hospital
Muscular Dystrophy Association
Principal Investigator: Jerry R. Mendell, M.D. The Research Institute at Nationwide Children's Hospital
  More Information

No publications provided

Responsible Party: Jerry R. Mendell, DIRECTOR CENTER FOR GENE THERAPY, Nationwide Children's Hospital Identifier: NCT00457912     History of Changes
Other Study ID Numbers: IRB05-00101, NIH Grant U54AR050733
Study First Received: April 6, 2007
Last Updated: February 2, 2015
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Genetic Diseases, Inborn
Muscular Diseases
Muscular Disorders, Atrophic
Musculoskeletal Diseases
Nervous System Diseases
Neuromuscular Diseases processed this record on August 27, 2015