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Trial record 4 of 24 for:    "Muscular Dystrophies, Limb-Girdle"

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

This study is ongoing, but not recruiting participants.
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 Identifier:
First received: April 6, 2007
Last updated: July 25, 2016
Last verified: July 2016
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

Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
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
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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
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Muscular Dystrophy Association
Principal Investigator: Jerry R. Mendell, M.D. The Research Institute at Nationwide Children's Hospital
  More Information

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: July 25, 2016

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 processed this record on April 28, 2017