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

This study is currently recruiting participants. (see Contacts and Locations)
Verified July 2014 by Carolinas Healthcare System
Sponsor:
Information provided by (Responsible Party):
Benjamin Brooks, Carolinas Healthcare System
ClinicalTrials.gov Identifier:
NCT01950897
First received: March 30, 2013
Last updated: July 2, 2014
Last verified: July 2014
  Purpose

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
Muscular Dystrophies
Muscular Dystrophy

Study Type: Observational
Study Design: Time Perspective: Prospective

Resource links provided by NLM:


Further study details as provided by 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. ] [ Designated as safety issue: No ]

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)
Groups/Cohorts
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

  Eligibility

Ages Eligible for Study:   6 Years and older
Genders Eligible for Study:   Both
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.

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 ClinicalTrials.gov identifier: NCT01950897

Contacts
Contact: Cynthia Lary 704-446-6063 cynthia.lary@carolinashealthcare.org

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

No publications provided

Responsible Party: Benjamin Brooks, Medical Director, Carolinas Neuromuscular/ALS-MDA Center, CMC, Carolinas Healthcare System
ClinicalTrials.gov 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
Health Authority: United States: Institutional Review Board

Keywords provided by Carolinas Healthcare System:
muscular dystrophies
muscular dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Disease Progression
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Disease Attributes
Pathologic Processes

ClinicalTrials.gov processed this record on July 23, 2014