- ICH GCP
- US Clinical Trials Registry
- Clinical Trial NCT01950897
Muscle Tissue Bank for Muscular Dystrophy
April 20, 2022 updated by: Wake Forest University Health Sciences
Establishment of Phenotypic Profiles of Muscular Dystrophies for Understanding Disease Progression, Diagnosis and Development of New Therapies
This protocol proposes to establish gene expression profiles of muscular dystrophies for correct diagnosis and for development of experimental therapies for these diseases.
Study Overview
Status
Completed
Conditions
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 Type
Observational
Enrollment (Actual)
21
Contacts and Locations
This section provides the contact details for those conducting the study, and information on where this study is being conducted.
Study Locations
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North Carolina
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Charlotte, North Carolina, United States, 28207
- Carolinas Medical Center - Dept of Neurology
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Participation Criteria
Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.
Eligibility Criteria
Ages Eligible for Study
6 years and older (Child, Adult, Older Adult)
Accepts Healthy Volunteers
Yes
Genders Eligible for Study
All
Sampling Method
Non-Probability Sample
Study Population
Patients presenting to the Carolinas Medical Center (CMC) Department of Neurology who meet study criteria.
Description
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
Study Plan
This section provides details of the study plan, including how the study is designed and what the study is measuring.
How is the study designed?
Design Details
Cohorts and Interventions
Group / Cohort |
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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
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normal controls
subjects who do not have muscular dystrophy and from whom muscle samples are obtained for any medical purpose
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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)
Time Frame: Data will be analyzed at one year.
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Samples of MD subjects will be compared to samples of non-muscular dystrophy subjects (i.e.
control samples).
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Data will be analyzed at one year.
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Collaborators and Investigators
This is where you will find people and organizations involved with this study.
Investigators
- Principal Investigator: Benjamin R Brooks, MD, Medical Director, Carolinas Neuromuscular/ALS-MDA Center, CMC
Study record dates
These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.
Study Major Dates
Study Start (Actual)
August 24, 2005
Primary Completion (Actual)
January 30, 2015
Study Completion (Actual)
June 9, 2015
Study Registration Dates
First Submitted
March 30, 2013
First Submitted That Met QC Criteria
September 23, 2013
First Posted (Estimate)
September 26, 2013
Study Record Updates
Last Update Posted (Actual)
April 26, 2022
Last Update Submitted That Met QC Criteria
April 20, 2022
Last Verified
December 1, 2019
More Information
Terms related to this study
Keywords
Additional Relevant MeSH Terms
Other Study ID Numbers
- CHS-Neurology-MD Muscle Tissue
This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.
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