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Genetics of Cardiovascular and Neuromuscular Disease

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ClinicalTrials.gov Identifier: NCT00138931
Recruitment Status : Recruiting
First Posted : August 30, 2005
Last Update Posted : August 24, 2016
Sponsor:
Information provided by (Responsible Party):
University of Chicago

Study Description
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information
Brief Summary:
We are studying the genetics of human cardiovascular and neuromuscular disease. There are many different genetic regions that have been associated with the development of cardiomyopathy. An equal number of genetic regions have been associated with muscular dystrophy and there is overlap because some of the identical genes, when mutated, produce both cardiomyopathy and muscular dystrophy. We are working to identify genes and gene mutations associated with cardiomyopathy, arrhythmias and muscular dystrophy. We propose to screen these samples for mutations in genes known to be involved in these disorders.

Condition or disease Intervention/treatment
Cardiomyopathy Arrhythmia Muscular Dystrophy Procedure: Blood draw (genetic testing)

Study Design
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Study Type : Observational
Estimated Enrollment : 2000 participants
Observational Model: Family-Based
Official Title: Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.
Study Start Date : September 1996
Estimated Primary Completion Date : January 2025

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U.S. FDA Resources

Groups and Cohorts
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Intervention Details:
    Procedure: Blood draw (genetic testing)
    Blood draw (genetic testing)

Outcome Measures
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Primary Outcome Measures :
  1. Identification of genetic causes of cardiomyopathy [ Time Frame: unlimited ]

Eligibility Criteria
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients of all ages with familial idiopathic cardiomyopathy, including dilated, hypertrophic, and left ventricular non-compaction cardiomyopathy
Criteria

Inclusion Criteria:

  • Patients of all ages will be considered for the study. In particular, families with more than one affected relative will be sought.

Exclusion Criteria:

  • Subjects without a suspected inherited cardiovascular or neuromuscular disorder will be excluded from this study.
Contacts and Locations
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

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 ClinicalTrials.gov identifier (NCT number): NCT00138931


Contacts
Contact: Lisa Dellefave, MS 773-702-4310 Ldellefa@medicine.bsd.uchicago.edu
Contact: Elizabeth McNally, MD PhD 773-702-2679 emcnally@uchicago.edu

Locations
United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Lisa Dellefave, MS    773-702-4310    Ldellefa@medicine.bsd.uchicago.edu   
Sponsors and Collaborators
University of Chicago
Investigators
Principal Investigator: Elizabeth McNally, MD PhD University of Chicago
More Information
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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Additional Information:
McNally Lab Homepage  This link exits the ClinicalTrials.gov site

Publications of Results:

Other Publications:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Responsible Party: University of Chicago
ClinicalTrials.gov Identifier: NCT00138931     History of Changes
Other Study ID Numbers: 8249
First Posted: August 30, 2005    Key Record Dates
Last Update Posted: August 24, 2016
Last Verified: August 2016

Keywords provided by University of Chicago:
Cardiomyopathy
Arrhythmia
Muscular Dystrophy

Additional relevant MeSH terms:
Cardiomyopathies
Muscular Dystrophies
Neuromuscular Diseases
Heart Diseases
Cardiovascular Diseases
 Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn