Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

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.

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Key information

Conditions

Limb-girdle Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophies, Limb-Girdle Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Sex eligibility

All sexes

Study type

Observational

Primary location

Nationwide Children's Hospital

Columbus, Ohio, 43205, United States

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Sponsors and collaborators

Lead sponsor

Nationwide Children's Hospital

Other

Collaborators

Muscular Dystrophy Association
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Registry information

Important dates

Study start: 2005
Primary completion: 2018
Study completion: 2018
First posted: Apr 9, 2007
Registry last updated: Jan 25, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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