Genetics of Cardiovascular and Neuromuscular Disease

The recruitment status of this study is unknown because the information has not been verified recently.
Verified July 2008 by University of Chicago.
Recruitment status was  Recruiting
Information provided by:
University of Chicago Identifier:
First received: August 29, 2005
Last updated: July 16, 2008
Last verified: July 2008

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 Intervention
Muscular Dystrophy
Procedure: Blood draw (genetic testing)

Study Type: Observational
Study Design: Observational Model: Family-Based
Official Title: Genetic Studies of Patients and Their Families With Inherited Cardiovascular and Neuromuscular Diseases.

Resource links provided by NLM:

Further study details as provided by University of Chicago:

Estimated Enrollment: 2000
Study Start Date: September 1996
Intervention Details:
    Procedure: Blood draw (genetic testing)
    Blood draw (genetic testing)

Genders Eligible for Study:   Both
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


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
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 identifier: NCT00138931

Contact: Lisa Dellefave, MS 773-702-4310
Contact: Elizabeth McNally, MD PhD 773-702-2679

United States, Illinois
University of Chicago Recruiting
Chicago, Illinois, United States, 60637
Contact: Lisa Dellefave, MS    773-702-4310   
Sponsors and Collaborators
University of Chicago
Principal Investigator: Elizabeth McNally, MD PhD University of Chicago
  More Information

Additional Information:
Vainzof, M., L. V.B. Anderson, E. M. McNally, D. B. Davis, G. Faulkner, E. S. Moreira, R. C. M. Pavanello, M. R. Passos-Bueno and M. Zatz. Dysferlin protein analysis in the muscular dystrophies. (2001) J. Mol. Neurosci. 1:71-80.
McNally, E. M. and J. A. Towbin. Cardiomyopathy in Muscular Dystrophy. (2004) Neuromusc. Disorders 14:442-8.

Additional publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: Elizabeth McNally, The University of Chicago Identifier: NCT00138931     History of Changes
Other Study ID Numbers: 8249
Study First Received: August 29, 2005
Last Updated: July 16, 2008
Health Authority: United States: Institutional Review Board

Keywords provided by University of Chicago:
Muscular Dystrophy

Additional relevant MeSH terms:
Muscular Dystrophies
Neuromuscular Diseases
Heart Diseases
Cardiovascular Diseases
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Nervous System Diseases
Genetic Diseases, Inborn processed this record on September 18, 2014