Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

January 23, 2018 updated by: Jerry R. Mendell, Nationwide Children's Hospital
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.

Study Overview

Status

Completed

Conditions

Study Type

Observational

Enrollment (Actual)

277

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Ohio
      • Columbus, Ohio, United States, 43205
        • Nationwide Children's Hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

any subject with clinical diagnosis of LGMD

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Case-Only
  • Time Perspectives: Prospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nationwide Children's Hospital

Collaborators

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

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start

June 1, 2005

Primary Completion (Actual)

January 1, 2018

Study Completion (Actual)

January 1, 2018

Study Registration Dates

First Submitted

April 6, 2007

First Submitted That Met QC Criteria

April 6, 2007

First Posted (Estimate)

April 9, 2007

Study Record Updates

Last Update Posted (Actual)

January 25, 2018

Last Update Submitted That Met QC Criteria

January 23, 2018

Last Verified

January 1, 2018

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • IRB05-00101
  • NIH Grant U54AR050733

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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