Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

NCT00457912 | Completed

• 2 other identifiers: IRB05-00101NIH Grant U54AR050733
• Study Type: observational
• Target: 277
• Locations: 1 country
• Sites: 1

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.

Conditions

Limb-Girdle Muscular Dystrophy

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

any subject with clinical diagnosis of LGMD

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Nationwide Children's Hospital: lead
• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): collaborator
• Muscular Dystrophy Association: collaborator

Study Sites (1)

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

whole blood, muscle tissue

MeSH Terms

Conditions

Muscular Dystrophies, Limb-Girdle

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Jerry R. Mendell, M.D.

  The Research Institute at Nationwide Children's Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: DIRECTOR CENTER FOR GENE THERAPY

Study Record Dates

• First Submitted: April 6, 2007
• First Posted: April 9, 2007
• Study Start: June 1, 2005
• Primary Completion: January 1, 2018
• Study Completion: January 1, 2018
• Last Updated: January 25, 2018

Record last verified: 2018-01

Locations

US (1)