Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease

This study has been completed.

Sponsor:

Information provided by:

National Institutes of Health Clinical Center (CC)

ClinicalTrials.gov Identifier:

NCT00001881

First received: November 3, 1999

Last updated: March 3, 2008

Last verified: February 2000

History of Changes

Tracking Information
First Received Date ^ICMJE	November 3, 1999
Last Updated Date	March 3, 2008
Start Date ^ICMJE	March 1999
Primary Completion Date	Not Provided
Current Primary Outcome Measures ^ICMJE	Not Provided
Original Primary Outcome Measures ^ICMJE	Not Provided
Change History	Complete list of historical versions of study NCT00001881 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures ^ICMJE	Not Provided
Original Secondary Outcome Measures ^ICMJE	Not Provided
Current Other Outcome Measures ^ICMJE	Not Provided
Original Other Outcome Measures ^ICMJE	Not Provided

Descriptive Information
Brief Title ^ICMJE	Signs and Symptoms of Genetic Abnormalities Linked to Inherited Heart Disease
Official Title ^ICMJE	Clinical Manifestations of Mutations in Genes Linked to Familial Cardiomyopathy
Brief Summary	Genetically inherited heart diseases (familial cardiomyopathies) are conditions affecting the heart passed on to family members through abnormalities in genetic information. These conditions are responsible for many heart related deaths and illnesses. In this study researchers hope to determine the signs and symptoms (clinical correlation) associated with specific genetic abnormalities causing inherited heart diseases. In order to do this, researchers plan to evaluate patients and family members of patients diagnosed with inherited heart disease. Patients participating in the study will undergo several tests including blood tests, electrocardiograms (EKG), and echocardiograms. Patients may also be asked to undergo an MRI of the heart to provide a clearer picture of it. Patients participating in this study may not be directly benefited by it. However, information gathered from the study may contribute to the medical care, treatment, and prevention of problems for others in the future.
Detailed Description	Familial cardiomyopathy (FC) often demonstrates both non-allelic and allelic genetic heterogeneity. We propose to determine the clinical correlates of specific genetic defects which cause FC by identifying and expanding a set of kindreds with identical and distinct molecular defects.
Study Type ^ICMJE	Observational
Study Design ^ICMJE	Not Provided
Target Follow-Up Duration	Not Provided
Biospecimen	Not Provided
Sampling Method	Not Provided
Study Population	Not Provided
Condition ^ICMJE	Cardiomyopathy, Hypertrophic, Familial
Intervention ^ICMJE	Not Provided
Study Group/Cohort (s)	Not Provided
Publications *	Fananapazir L, Epstein ND. Prevalence of hypertrophic cardiomyopathy and limitations of screening methods. Circulation. 1995 Aug 15;92(4):700-4. Review. No abstract available. Wigle ED, Rakowski H, Kimball BP, Williams WG. Hypertrophic cardiomyopathy. Clinical spectrum and treatment. Circulation. 1995 Oct 1;92(7):1680-92. Review. Fananapazir L, McAreavey D. Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death. Pacing Clin Electrophysiol. 1997 Feb;20(2 Pt 2):478-501. Review.
* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.

Recruitment Information
Recruitment Status ^ICMJE	Completed
Enrollment ^ICMJE	9999
Completion Date	April 2001
Primary Completion Date	Not Provided
Eligibility Criteria ^ICMJE	Individuals with cardiomyopathy referred for evaluation to the NIH.
Gender	Both
Ages	Not Provided
Accepts Healthy Volunteers	No
Contacts ^ICMJE	Contact information is only displayed when the study is recruiting subjects
Location Countries ^ICMJE	United States

Administrative Information
NCT Number ^ICMJE	NCT00001881
Other Study ID Numbers ^ICMJE	990065, 99-H-0065
Has Data Monitoring Committee	Not Provided
Responsible Party	Not Provided
Study Sponsor ^ICMJE	National Heart, Lung, and Blood Institute (NHLBI)
Collaborators ^ICMJE	Not Provided
Investigators ^ICMJE	Not Provided
Information Provided By	National Institutes of Health Clinical Center (CC)
Verification Date	February 2000
^ICMJE Data element required by the International Committee of Medical Journal Editors and the World Health Organization ICTRP

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