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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01950897
Recruitment Status : Unknown
Verified July 2014 by Benjamin Brooks, Carolinas Healthcare System.
Recruitment status was:  Recruiting
First Posted : September 26, 2013
Last Update Posted : July 3, 2014
Information provided by (Responsible Party):
Benjamin Brooks, Carolinas Healthcare System

Brief Summary:
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.

Condition or disease
Muscular Dystrophies Muscular Dystrophy

Study Type : Observational
Estimated Enrollment : 250 participants
Time Perspective: Prospective
Study Start Date : September 2005
Estimated Primary Completion Date : September 2015
Estimated Study Completion Date : September 2015

Resource links provided by the National Library of Medicine

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

Primary Outcome Measures :
  1. 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

Information from the National Library of Medicine

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, Learn About Clinical Studies.

Ages Eligible for Study:   6 Years and older   (Child, Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): 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

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
First Posted: September 26, 2013    Key Record Dates
Last Update Posted: July 3, 2014
Last Verified: July 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