dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)

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....

Study Overview

• Status: Completed
• Conditions: Congenital Heart Disease

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.

• Study Type: Observational
• Enrollment (Actual): 6260

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Bethesda, Maryland, United States, 20892
      • National Heart, Lung and Blood Institute (NHLBI)

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 60 years (Child, Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

People who already participated in the Pediatric Cardiac Genomics Study

Description

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

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort
1; People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identification of novel genetic variants associated with a CHD phenotype	de novo variants, SNPs, and CNVs	Ongoing

Collaborators and Investigators

• Sponsor: National Heart, Lung, and Blood Institute (NHLBI)
• Investigators: Principal Investigator: Jonathan R Kaltman, M.D., National Heart, Lung, and Blood Institute (NHLBI)

Study record dates

Study Major Dates

• Study Start (Actual): October 20, 2017
• Primary Completion (Actual): January 10, 2020
• Study Completion (Actual): January 10, 2020

Study Registration Dates

• First Submitted: November 17, 2017
• First Submitted That Met QC Criteria: November 17, 2017
• First Posted (Actual): November 20, 2017

Study Record Updates

• Last Update Posted (Actual): January 18, 2020
• Last Update Submitted That Met QC Criteria: January 16, 2020
• Last Verified: January 1, 2020

More Information

Terms related to this study

• Keywords: dbGaP
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Heart Diseases; Heart Defects, Congenital
• Other Study ID Numbers: 999918006; 18-H-N006

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No