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CompletedNCT00457912Updated Jan 25, 2018

Genetic Characterization of Individuals With Limb Girdle Muscular Dystrophy

An observational study in Limb-Girdle Muscular Dystrophy, sponsored by Nationwide Children's Hospital. Completed at 1 site in United States. Per ClinicalTrials.gov, last updated 2018-01-25.

Sponsored by Nationwide Children's Hospital · Observational

Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
277
Sex
All
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Study 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.

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Conditions studied

  • Limb-Girdle Muscular Dystrophy
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In context

Muscular Dystrophies

548 studies on the registry are indexed under Muscular Dystrophies; 89 are open to participants now.

This study's enrollment of 277 is above the median of 69 across 179 observational studies indexed under Muscular Dystrophies.

Browse Muscular Dystrophies studies →

Lead sponsor

Nationwide Children's Hospital is the lead sponsor of 231 studies on the registry; 43 are open to participants now.

Of its 16 completed or terminated interventional studies of FDA-regulated products, 8 (50%) have results posted.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Child (0–17), Adult (18–64), Older adult (65+)
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

any subject with clinical diagnosis of LGMD

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

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
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Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
277 participants (actual)
Biospecimen retention
Samples with dna
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Study locations

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

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jan 25, 2018, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT00457912
Lead sponsor
Nationwide Children's Hospital
Collaborators
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), Muscular Dystrophy Association
Responsible party
Jerry R. Mendell (DIRECTOR CENTER FOR GENE THERAPY, Nationwide Children's Hospital) — Principal investigator
First posted
Apr 9, 2007
Start date
Jun 2005
Primary completion
Jan 1, 2018
Completion
Jan 1, 2018
Last update
Jan 25, 2018

Study contacts

Jerry R. Mendell, M.D.
principal investigator · The Research Institute at Nationwide Children's Hospital

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is completed, as verified in Jan 2018. You cannot join it, but the record below documents what was studied.

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