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dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)

dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)

Status
Completed
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT03347214
Enrollment
6260
Registered
2017-11-20
Start date
2017-10-20
Completion date
2020-01-10
Last updated
2020-01-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Congenital Heart Disease

Keywords

dbGaP

Brief summary

Background: Researchers do not know much about the causes of congenital heart disease (CHD). They do know that many factors play a role. Some factors are environmental. Some are genetic. But few specific factors have been identified. And researchers do not know how many involve genes. They want to study data that has already been collected from people with CHD and their families. Objectives: To identify genetic variations related to CHD. To study molecules related to vascular disease in order to learn new ways to treat it. Eligibility: People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study Design: Researchers will study data that was already collected in the PCGC. There will be no active participants. Researchers will get access to the data through the coordinating center. They will not download data to local storage devices. The data will have no personally identifying information....

Detailed description

Current understanding of the causes of congenital heart disease (CHD) is limited, but CHD is known to be multifactorial and affected by a combination of environmental, teratogenic, and genetic causes. Furthermore, both genetic and environmental factors have been proposed to act as disease modifiers, accounting for a wide variation in phenotypic expression and clinical outcomes of these disorders. To date however, few specific genetic or environmental causative factors have been identified, nor is it even known what proportion of cases involve genetic factors.

Interventions

None listed

Sponsors

National Heart, Lung, and Blood Institute (NHLBI)
Lead SponsorNIH

Study design

Observational model
FAMILY_BASED
Time perspective
RETROSPECTIVE

Eligibility

Sex/Gender
ALL
Age
No minimum to 60 Years
Healthy volunteers
No

Inclusion criteria

* Retrospective Analysis Study. Data will be analyzed from subjects from cardiovascular disease databases.

Design outcomes

Primary

MeasureTime frameDescription
Identification of novel genetic variants associated with a CHD phenotypeOngoingde novo variants, SNPs, and CNVs

Countries

United States

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Mar 5, 2026