Ignite Creation Date:
2024-05-05 @ 10:23 AM
Last Modification Date:
2024-10-26 @ 9:05 AM
Study NCT ID:
NCT00005546
Status:
COMPLETED
Last Update Posted:
2016-05-13
First Post:
2000-05-25
Brief Title:
Molecular Genetic Epidemiology of Three Cardiac Defects -SCOR in Pediatric Cardiovascular Disease
Sponsor:
National Heart Lung and Blood Institute NHLBI
Organization:
National Heart Lung and Blood Institute NHLBI
Study Overview
Official Title:
None
Status:
COMPLETED
Status Verified Date:
2004-12
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:
To identify genes involved in the pathogenesis of three types of congenital heart disease atrial septal defects paramembranous ventricular septal defects and atrioventricular canal defects
Detailed Description:
BACKGROUND
Congenital heart defects CHDs are thought to result from genetic and environmental factors that disturb cardiac embryogenesis Because families with multiple members affected with atrial septal defects ASDs and atrioventricular canal defects AVCDs have been described in previous studies and the paramembranous ventricular septum is in part completed by the formation of the atrioventricular cushions this project describes a genetic-epidemiologic study of ASDs paramembranous ventricular septal defects VSDs and AVCDs
DESIGN NARRATIVE
The study is one of several subprojects within a Specialized Center of Research SCOR in Pediatric Cardiovascular Disease Three groups of subjects each with surgically- or echocardiographically-confirmed diagnoses of ASDs VSDs or AVCDs have been identified for study at the University of Iowa Hospitals and Clinics and at Wolfson Childrens Hospital in Jacksonville Florida A fourth group of older subjects with ASDs and their progeny will be studied at Iowa because of the reported high recurrence of heart disease in the offspring of subjects with ASDs The strategy calls upon the molecular genetic capacities available at the University of Iowa to carry out genome-wide searches for genetic loci involved in these defects Several candidate regions have been identified for ASDs VSDs and AVCDs In addition three well-recognized syndromes provide additional candidate regions - Down syndrome Holt-Oram syndrome and 8p-syndrome Parent-affected child trios will be genotyped for closely-spaced markers within these regions and linkage disequilibrium analysis will be used to narrow or exclude these candidate intervals A genome-wide association study of the trios will employ a parsimonious technique in which DNA from cases with the same CHD phenotype will be pooled and compared to the pooled DNA from their parents Loci will be identified where the allele frequency distributions in the affected children and their parents are significantly different When such loci are identified a finer localization of the chromosomal area will be undertaken using a high-density set of short tandem repeat polymorphic markers that spans each of the candidate intervals
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Congenital heart defects CHDs are thought to result from genetic and environmental factors that disturb cardiac embryogenesis Because families with multiple members affected with atrial septal defects ASDs and atrioventricular canal defects AVCDs have been described in previous studies and the paramembranous ventricular septum is in part completed by the formation of the atrioventricular cushions this project describes a genetic-epidemiologic study of ASDs paramembranous ventricular septal defects VSDs and AVCDs
DESIGN NARRATIVE
The study is one of several subprojects within a Specialized Center of Research SCOR in Pediatric Cardiovascular Disease Three groups of subjects each with surgically- or echocardiographically-confirmed diagnoses of ASDs VSDs or AVCDs have been identified for study at the University of Iowa Hospitals and Clinics and at Wolfson Childrens Hospital in Jacksonville Florida A fourth group of older subjects with ASDs and their progeny will be studied at Iowa because of the reported high recurrence of heart disease in the offspring of subjects with ASDs The strategy calls upon the molecular genetic capacities available at the University of Iowa to carry out genome-wide searches for genetic loci involved in these defects Several candidate regions have been identified for ASDs VSDs and AVCDs In addition three well-recognized syndromes provide additional candidate regions - Down syndrome Holt-Oram syndrome and 8p-syndrome Parent-affected child trios will be genotyped for closely-spaced markers within these regions and linkage disequilibrium analysis will be used to narrow or exclude these candidate intervals A genome-wide association study of the trios will employ a parsimonious technique in which DNA from cases with the same CHD phenotype will be pooled and compared to the pooled DNA from their parents Loci will be identified where the allele frequency distributions in the affected children and their parents are significantly different When such loci are identified a finer localization of the chromosomal area will be undertaken using a high-density set of short tandem repeat polymorphic markers that spans each of the candidate intervals
The study completion date listed in this record was obtained from the End Date entered in the Protocol Registration and Results System PRS record
Study Oversight
Has Oversight DMC:
Is a FDA Regulated Drug?:
Is a FDA Regulated Device?:
Is an Unapproved Device?:
Is a PPSD?:
Is a US Export?:
Is an FDA AA801 Violation?:
Secondary IDs
| Secondary ID | Type | Domain | Link |
|---|---|---|---|
| P50HL062178 | NIH | None | httpsreporternihgovquickSearchP50HL062178 |