Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

This study is currently recruiting participants.

Verified by Nationwide Children's Hospital, November 2008

First Received: April 6, 2007 Last Updated: November 24, 2008 History of Changes

Sponsor:	Nationwide Children's Hospital
Information provided by:	Nationwide Children's Hospital
ClinicalTrials.gov Identifier:	NCT00457912

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:	Prospective
Official Title:	Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

Resource links provided by NLM:

MedlinePlus related topics: Muscular Dystrophy

U.S. FDA Resources

Eligibility

Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

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
Columbus Children's Hospital	Recruiting
Columbus, Ohio, United States, 43205
Contact: Xiomara Rosales, MD 614-722-6961 rosalesx@ccri.net
Contact: Laurence Viollet, PhD (614) 355-2695 violletl@ccri.net
Principal Investigator: Jerry R. Mendell, MD

Sponsors and Collaborators

Nationwide Children's Hospital

Investigators

Principal Investigator:

Jerry R. Mendell, M.D.

Nationwide Children's Hospital

More Information

No publications provided

Study ID Numbers:	IRB05-00101, NIH Grant U54AR050733
Study First Received:	April 6, 2007
Last Updated:	November 24, 2008
ClinicalTrials.gov Identifier:	NCT00457912 History of Changes
Health Authority:	United States: Institutional Review Board

Additional relevant MeSH terms:

Muscular Dystrophies
Muscular Diseases
Muscular Dystrophies, Limb-Girdle
Genetic Diseases, Inborn

Neuromuscular Diseases
Musculoskeletal Diseases
Muscular Disorders, Atrophic
Nervous System Diseases

ClinicalTrials.gov processed this record on February 04, 2010