Muscle Tissue Bank for Muscular Dystrophy

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

21 participants

Study Classification

OBSERVATIONAL

Study Start Date

2005-08-24

Study Completion Date

2015-06-09

Brief Summary

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This protocol proposes to establish gene expression profiles of muscular dystrophies for correct diagnosis and for development of experimental therapies for these diseases.

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Detailed Description

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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.

Conditions

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Muscular Dystrophies Muscular Dystrophy

Study Design

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Observational Model Type

OTHER

Study Time Perspective

PROSPECTIVE

Study Groups

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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

No interventions assigned to this group

normal controls

subjects who do not have muscular dystrophy and from whom muscle samples are obtained for any medical purpose

No interventions assigned to this group

Eligibility Criteria

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Inclusion Criteria

* 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.
* 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.