Ignite Creation Date:
2024-05-05 @ 11:08 AM
Last Modification Date:
2024-10-26 @ 9:02 AM
Study NCT ID:
NCT00001225
Status:
COMPLETED
Last Update Posted:
2008-03-04
First Post:
1999-11-03
Brief Title:
Family Studies of Inherited Heart Disease
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Institutes of Health Clinical Center CC
Study Overview
Official Title:
Family Studies of Hypertrophic Cardiomyopathy
Status:
COMPLETED
Status Verified Date:
2002-08
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:
Hypertrophic cardiomyopathy HCM is a genetically inherited heart disease It causes thickening of heart muscle especially the chamber responsible for pumping blood out of the heart the left ventricle Hypertrophic cardiomyopathy HCM is the most important cause of sudden death in apparently healthy young people
A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease
In this study researchers will collect samples of DNA from family members of patients with HCM The diagnosis of the disease will be made by history and physical examination electrocardiogram 12 lead ECG and ultrasound of the heart 2-D echocardiogram The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated
In order to continue research on the genetic causes of heart disease researchers intend on studying families with specific genetic mutations beta-MHC causing HCM Researcher plan to also study families with HCM not linked to specific gene mutations beta-MHC
A genetic test called linkage analysis is used to locate genes causing inherited diseases like HCM Linkage analysis requires large families to be evaluated clinically in order to identify the members with and without the disease
In this study researchers will collect samples of DNA from family members of patients with HCM The diagnosis of the disease will be made by history and physical examination electrocardiogram 12 lead ECG and ultrasound of the heart 2-D echocardiogram The ability of the researchers to locate the gene responsible for the disease improves with increases in the size of the family and members evaluated
In order to continue research on the genetic causes of heart disease researchers intend on studying families with specific genetic mutations beta-MHC causing HCM Researcher plan to also study families with HCM not linked to specific gene mutations beta-MHC
Detailed Description:
Hypertrophic cardiomyopathy HCM is the most important cause of sudden death in apparently healthy young individuals but its clinical manifestations are highly variable Linkage analysis is used to localize a gene causing an inherited autosomal dominant disease such as HCM Linkage analysis requires that large families be evaluated clinically to determine the members with and without the disease For this study DNA needs to be extracted from blood samples of family members The presence of the disease is determined by history and physical exam 12 lead ECG and 2-D echocardiogram The likelihood of localizing the gene increases with the size of the family and the number of members evaluated The beta myosin heavy chain beta-MHC gene has been shown to be responsible for HCM in 10-30 of affected kindreds Other linage studies have shown that there are at least 3 other genes which cause HCM in other kindreds but these genes are presently unknown We have identified 13 unique mutations in the beta-MHC gene which cause the disease in 17 kindreds This has allowed us to demonstrate skeletal muscle involvement study the abnormal physiology which is a consequence of the mutations make pre-symptomatic diagnosis and redefine the natural history of the disease In order to continue our clinical and laboratory studies of this disease over the next 3 years it is our intention to identify 50 additional HCM kindreds with approximately 50 members each that have beta-MHC gene mutations During this time in order to map other HCM genes we will also evaluate at least 6 families of approximately 300 members each in which the disease is not linked to the beta-MHC gene
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 |
|---|---|---|---|
| 87-H-0057 | None | None | None |