Muscle Tissue Bank for Muscular Dystrophy

Study Overview
=================
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.

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.

Official Title
-----------------
Establishment of Phenotypic Profiles of Muscular Dystrophies for Understanding Disease Progression, Diagnosis and Development of New Therapies

Conditions
-----------------
Muscular Dystrophies, Muscular Dystrophy

Participation Criteria
=================
Eligibility Criteria
-----------------
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. Exclusion Criteria: Under age 6

Ages Eligible for Study
-----------------
Minimum Age: 6 Years

Sexes Eligible for Study
-----------------
All

Accepts Healthy Volunteers
-----------------
Accepts Healthy Volunteers

Study Plan
=================
How is the study designed?
-----------------

Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| subjects dx'd clinically w/ muscular dystrophy<br>subjects with muscular dystrophy from whom muscle samples are obtained for clinical diagnosis or for any other medical purpose | |
| normal controls<br>subjects who do not have muscular dystrophy and from whom muscle samples are obtained for any medical purpose | |

What is the study measuring?
-----------------
Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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) | Samples of MD subjects will be compared to samples of non-muscular dystrophy subjects (i.e. control samples). | Data will be analyzed at one year. | 

 Terms related to the study
=================
Keywords Provided by Centre Hospitalier Valida
-----------------
muscular dystrophies, muscular dystrophy