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

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

    • North Carolina
      • Charlotte, North Carolina, United States, 28207
        • Carolinas Medical Center - Dept of Neurology

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
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

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.
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.

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

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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