Muscle Tissue Bank for Muscular Dystrophy

Muscular Dystrophies Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01950897
• Other study ID #: CHS-Neurology-MD Muscle Tissue
• Status: Completed
• Start date: August 24, 2005
• Est. completion date: June 9, 2015

Study information

• Verified date: December 2019
• Source: Wake Forest University Health Sciences
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

This protocol proposes to establish gene expression profiles of muscular dystrophies for correct diagnosis and for development of experimental therapies for these diseases.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 21
• Est. completion date: June 9, 2015
• Est. primary completion date: January 30, 2015
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 6 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Muscular Dystrophies
• Muscular Dystrophy

Locations

Country	Name	City	State
United States	Carolinas Medical Center - Dept of Neurology	Charlotte	North Carolina

Sponsors (1)

Lead Sponsor	Collaborator
Wake Forest University Health Sciences

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	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)	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.