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Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

This study is ongoing, but not recruiting participants.
Sponsor:
Collaborators:
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Muscular Dystrophy Association
Information provided by (Responsible Party):
Jerry R. Mendell, Nationwide Children's Hospital
ClinicalTrials.gov Identifier:
NCT00457912
First received: April 6, 2007
Last updated: April 10, 2012
Last verified: April 2012
History of Changes
  Purpose

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.


Condition
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:

U.S. FDA Resources

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
  Eligibility

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

any subject with clinical diagnosis of LGMD

Criteria

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
Please refer to this study by its ClinicalTrials.gov identifier: NCT00457912

Locations
United States, Ohio
Nationwide Children's Hospital
Columbus, Ohio, United States, 43205
Sponsors and Collaborators
Nationwide Children's Hospital
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Muscular Dystrophy Association
Investigators
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
ClinicalTrials.gov Identifier: NCT00457912     History of Changes
Other Study ID Numbers: IRB05-00101, NIH Grant U54AR050733
Study First Received: April 6, 2007
Last Updated: April 10, 2012
Health Authority: United States: Institutional Review Board

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophies, Limb-Girdle
Muscular Disorders, Atrophic
Muscular Diseases
 Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn

ClinicalTrials.gov processed this record on May 19, 2013