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Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

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ClinicalTrials.gov Identifier: NCT00457912
Recruitment Status : Completed
First Posted : April 9, 2007
Last Update Posted : January 25, 2018
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

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.

Condition or disease
Limb-Girdle Muscular Dystrophy

Study Type : Observational
Actual Enrollment : 277 participants
Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy
Study Start Date : June 2005
Primary Completion Date : January 1, 2018
Study Completion Date : January 1, 2018





Biospecimen Retention:   Samples With DNA
whole blood, muscle tissue


Information from the National Library of Medicine

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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
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): 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

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
First Posted: April 9, 2007    Key Record Dates
Last Update Posted: January 25, 2018
Last Verified: January 2018

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