Congenital Heart DiseaseNCT03347214
dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)
An observational study of Congenital Heart Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
Trial 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. Read more about this study
- Who is it for?
- Ages Up to 60 years
- Conditions the study is for
- Congenital Heart Disease
- How many people
- 6,260 participants
- Where
- 1 siteUnited States
- Study dates
- 20 Oct 2017to 10 Jan 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 60 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: People who already participated in the Pediatric Cardiac Genomics Study
- Retrospective Analysis Study. Data will be analyzed from subjects from cardiovascular disease databases.
Trial locations and contacts
1 site in 1 country.
United States1 site
National Heart, Lung and Blood Institute (NHLBI)
Bethesda, Maryland, 20892
About this study
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.
Read more
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....
Read the 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.
- Conditions
- Congenital Heart Disease
- Keywords
- dbGaP
- Medical subject headings
- Heart Defects, Congenital
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 1 | People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study |
What is being measured
The primary outcome is the main question the study is designed to answer.
Identification of novel genetic variants associated with a CHD phenotype
de novo variants, SNPs, and CNVs
Measured: Ongoing
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted20 Nov 2017
- Study start20 Oct 2017
- Primary completion10 Jan 2020
- Study completion10 Jan 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Congenital Heart DiseaseStudies of the same condition, open and under way.
- More trials run by National Heart, Lung, and Blood Institute (NHLBI)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Retrospective
- Enrolment
- 6,260 participants (actual)
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Responsible party
- Sponsor
- Investigators
- Jonathan R Kaltman, M.D., Principal investigator, National Heart, Lung, and Blood Institute (NHLBI)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03347214
- Sponsor's protocol ID
- 999918006
- Other IDs
- 18-H-N006
- Status last verified
- Jan 2020
- First submitted
- 17 Nov 2017
- Last updated
- 18 Jan 2020
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Ladha FA, VanderPluym C, Mondragon-Estrada E, Avillach P, Brueckner M, Chung WK, Cnota JF, Gelb BD, Lewis M, Liu C, Roberts AE, Seidman CE, Tristani-Firouzi M, Wagner M, Morton SU, Newburger JW; Pediatric Cardiac Genomics Consortium Investigators. Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial. J Am Heart Assoc. 2026 Mar 17;15(6):e046959. doi: 10.1161/JAHA.125.046959. Epub 2026 Mar 4.
PubMed 41778605
Study at a glance
From the registry record, last updated by the sponsor on 18 Jan 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- dbGaP Protocol: The Pediatric Cardiac Genetics Consortium (PCGC)
- ClinicalTrials.gov ID
- NCT03347214
- Acronym / sponsor ID
- 999918006
- Conditions
- Congenital Heart Disease
- Keywords
- dbGaP
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 6,260 participants (actual)
- Lead sponsor
- National Heart, Lung, and Blood Institute (NHLBI)US National Institutes of Health
- Study start
- 20 Oct 2017 (actual)
- Primary completion
- 10 Jan 2020 (actual)
- Study completion
- 10 Jan 2020 (actual)
- First posted
- 20 Nov 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Retrospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 1 | – | –People who already participated in the Pediatric Cardiac Genomics Consortium (PCGC) study |
Who may qualify
- Ages
- Up to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- People who already participated in the Pediatric Cardiac Genomics Study
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Identification of novel genetic variants associated with a CHD phenotype
Time frame: Ongoing
de novo variants, SNPs, and CNVs
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jan 2020.
- Derived from this study: PubMed 41778605Ladha FA, VanderPluym C, Mondragon-Estrada E, Avillach P, Brueckner M, Chung WK, Cnota JF, Gelb BD, Lewis M, Liu C, Roberts AE, Seidman CE, Tristani-Firouzi M, Wagner M, Morton SU, Newburger JW; Pediatric Cardiac Genomics Consortium Investigators. Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial. J Am Heart Assoc. 2026 Mar 17;15(6):e046959. doi: 10.1161/JAHA.125.046959. Epub 2026 Mar 4.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jonathan R Kaltman, M.D. principal investigator
National Heart, Lung, and Blood Institute (NHLBI)
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Congenital Heart Disease, run by National Heart, Lung, and Blood Institute (NHLBI) at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Jan 2020. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of novel genetic variants associated with a CHD phenotype (time frame: Ongoing). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03347214, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jan 2020.