Viewing Study NCT00027196



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Last Modification Date: 2024-10-26 @ 9:06 AM
Study NCT ID: NCT00027196
Status: COMPLETED
Last Update Posted: 2008-03-04
First Post: 2001-11-27

Brief Title: Signs and Symptoms Associated With Molecular Defects in Genetically Inherited Heart Disease
Sponsor: National Heart Lung and Blood Institute NHLBI
Organization: National Institutes of Health Clinical Center CC

Study Overview

Official Title: Clinical Correlates of Molecular Defects in Familial Cardiomyopathy
Status: COMPLETED
Status Verified Date: 2003-04
Last Known Status: None
Delayed Posting: No
If Stopped, Why?: Not Stopped
Has Expanded Access: False
If Expanded Access, NCT#: N/A
Has Expanded Access, NCT# Status: N/A
Acronym: None
Brief Summary: Genetically inherited heart diseases familial cardiopathies are conditions affecting the heart passed on to family members by abnormalities in genetic information These conditions are responsible for many heart related deaths and illnesses

Researchers are interested in learning more about the specific genetic abnormalities causing heart diseases In addition they would like to find out how these abnormal genes can contribute to the development of other medical problems

In order to do this researchers plan to study patients and family members of patients diagnosed with genetically inherited heart disease Those people participating in the study will undergo a variety of tests including blood tests echocardiograms and magnetic resonance imaging studies MRI These tests will be used to help researchers find the genetic problem causing the familial cardiopathy

Researchers hope that the information gathered from this study can be used to develop better medical care through early diagnosis management and treatment plans
Detailed Description: Familial cardiomyopathies FC are important cardiovascular causes of morbidity and mortality that demonstrate both allelic and non-allelic genetic heterogeneity We propose to perform genetic studies to determine novel molecular causes of FC and to describe their clinical correlates This will permit 1 pre-symptomatic diagnosis 2 definition of cardiac phenotype disease penetrance 3 natural history 4 study of abnormal physiology that is a consequence of the molecular defect 5 elucidation of specific mechanisms of arrythmias and sudden death and 6 demonstration and characterization of skeletal muscle involvement

Study Oversight

Has Oversight DMC: None
Is a FDA Regulated Drug?: None
Is a FDA Regulated Device?: None
Is an Unapproved Device?: None
Is a PPSD?: None
Is a US Export?: None
Is an FDA AA801 Violation?: None
Secondary IDs
Secondary ID Type Domain Link
98-H-0100 None None None