Muscle Tissue Bank for Muscular Dystrophy
Study Details
Study Description
Brief Summary
This protocol proposes to establish gene expression profiles of muscular dystrophies for correct diagnosis and for development of experimental therapies for these diseases.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
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Detailed Description
Muscular dystrophies are caused by mutations in more than 30 genes, some of them remaining to be identified. Phenotypically, it is known that one specific mutation can affect the expression of several other proteins causing difficulty in diagnosis. Correct genotyping is essential for diagnosis, prognosis and treatment, and relies on a complexed analysis of muscle tissues for phenotype profiles. Our research aims to understand how different gene mutations affect expression of other genes via muscle biopsy samples and establishment of phenotypic profiles for correct diagnosis of individual patients. Establishment of such information will be critical for understanding the progression of different muscular dystrophies and to devise new experimental therapies. This research will also provide vital clues for finding new genes involved in the disease process. Muscle samples may also be used to establish cell cultures for testing drugs and new therapies relevant to the treatment of the muscular dystrophies.
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| subjects dx'd clinically w/ muscular dystrophy subjects with muscular dystrophy from whom muscle samples are obtained for clinical diagnosis or for any other medical purpose |
|
| normal controls subjects who do not have muscular dystrophy and from whom muscle samples are obtained for any medical purpose |
Outcome Measures
Primary Outcome Measures
- Immunohistochemistry for protein expression profiling of skeletal muscle tissue; initial analysis will be qualitative (positive or negative) or semi-quantitative (strong, moderate, weak or negative) [Data will be analyzed at one year.]
Samples of MD subjects will be compared to samples of non-muscular dystrophy subjects (i.e. control samples).
Eligibility Criteria
Criteria
Inclusion Criteria:
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subjects with or without muscular dystrophy who will be undergoing a diagnostic or therapeutic procedure that involves the removal of a sample of skeletal muscle tissue.
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subjects with or without muscular dystrophy who have had a previous skeletal muscle biopsy performed and where a portion of the muscle sample remains in medical storage are also eligible for this study.
Exclusion Criteria:
- Under age 6
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Carolinas Medical Center - Dept of Neurology | Charlotte | North Carolina | United States | 28207 |
Sponsors and Collaborators
- Wake Forest University Health Sciences
Investigators
- Principal Investigator: Benjamin R Brooks, MD, Medical Director, Carolinas Neuromuscular/ALS-MDA Center, CMC
Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- CHS-Neurology-MD Muscle Tissue