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

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified July 2014 by Benjamin Brooks, Carolinas Healthcare System.
Recruitment status was:  Recruiting
Information provided by (Responsible Party):
Benjamin Brooks, Carolinas Healthcare System Identifier:
First received: March 30, 2013
Last updated: July 2, 2014
Last verified: July 2014
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. The 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.

Muscular Dystrophies Muscular Dystrophy

Study Type: Observational
Study Design: Time Perspective: Prospective

Resource links provided by NLM:

Further study details as provided by Benjamin Brooks, Carolinas Healthcare System:

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) [ Time Frame: Data will be analyzed at one year. ]

Biospecimen Retention:   Samples With DNA
skeletal muscle tissue

Estimated Enrollment: 250
Study Start Date: September 2005
Estimated Study Completion Date: September 2015
Estimated Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
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


Ages Eligible for Study:   6 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients presenting to the Carolinas Medical Center (CMC) Department of Neurology who meet study 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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01950897

Contact: Cynthia Lary 704-446-6063

United States, North Carolina
Carolinas Medical Center - Dept of Neurology Recruiting
Charlotte, North Carolina, United States, 28207
Contact: Cynthia Lary    704-446-6063   
Sponsors and Collaborators
Benjamin Brooks
Principal Investigator: Benjamin Brooks, MD Medical Director, Carolinas Neuromuscular/ALS-MDA Center, CMC
  More Information

Responsible Party: Benjamin Brooks, Medical Director, Carolinas Neuromuscular/ALS-MDA Center, CMC, Carolinas Healthcare System Identifier: NCT01950897     History of Changes
Other Study ID Numbers: CHS-Neurology-MD muscle tissue
Study First Received: March 30, 2013
Last Updated: July 2, 2014

Keywords provided by Benjamin Brooks, Carolinas Healthcare System:
muscular dystrophies
muscular dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn processed this record on August 23, 2017