Muscle Tissue Bank for Muscular Dystrophy

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

Status

Completed

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01950897

Enrollment

Registered

2013-09-26

Start date

2005-08-24

Completion date

2015-06-09

Last updated

2022-04-26

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Muscular Dystrophies, Muscular Dystrophy

Keywords

muscular dystrophies, muscular dystrophy

Brief summary

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

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.

Interventions

None listed

Study design

Observational model

OTHER

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Years to No maximum

Healthy volunteers

Yes

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

Design outcomes

Primary

Measure	Time frame	Description
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)	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).

Countries

United States

Outcome results