Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) (CHD GENES)

January 28, 2026 updated by: Children's Hospital Medical Center, Cincinnati

Congenital heart defects (CHD) are the most common major human birth malformation, affecting ~8 per 1,000 live births. CHD are associated with significant morbidity and mortality, and are second only to infectious diseases in contributing to the infant mortality rate. Current understanding of the etiology of pediatric cardiovascular disorders is limited.

The Congenital Heart Disease GEnetic NEtwork Study (CHD GENES) is a multi-center, prospective observational cohort study. Participants will be recruited from the Pediatric Cardiac Genomics Consortium's (PCGC) centers of the NHLBI-sponsored Bench to Bassinet (B2B) Program. Biological specimens will be obtained for genetic analyses, and phenotype data will be collected by interview and from medical records. State-of-the-art genomic technologies will be used to identify common genetic causes of CHD and genetic modifiers of clinical outcome.

To accomplish this, the PCGC will develop and maintain a biorepository of specimens (DNA) and genetic data, along with detailed, phenotypic and clinical outcomes data in order to investigate relationships between genetic factors and phenotypic and clinical outcomes in congenital heart disease.

Study Overview

Status

Active, not recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

32000

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United Kingdom
      • London, United Kingdom, WC1N3JH
        • University College London
  • United States
    • California
      • Los Angeles, California, United States, 90027
        • Children's Hospital Los Angeles
      • Palo Alto, California, United States, 94304
        • Stanford University
      • San Francisco, California, United States, 94158
        • University of California, San Francisco
    • Connecticut
      • New Haven, Connecticut, United States, 06520
        • Yale University
    • Georgia
      • Atlanta, Georgia, United States, 30342
        • Children's Healthcare of Atlanta
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Children's Hospital Boston
      • Boston, Massachusetts, United States, 02115
        • Brigham & Women's Hospital
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • University of Michigan Health
    • New York
      • New Hyde Park, New York, United States, 11040
        • Cohen Children's Medical Center New York
      • New York, New York, United States, 10032
        • Columbia University Medical Center
      • New York, New York, United States, 10029
        • Mount Sinai School of Medicine
      • Rochester, New York, United States, 14642
        • University of Rochester
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital Philadelphia
    • Utah
      • Salt Lake City, Utah, United States, 84113
        • University of Utah

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

No older than 99 years (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

While all patients with pediatric cardiovascular disease and adults with congenital heart disease are of interest, the study will initially focus on four CHD anatomic classifications:

  • Atrial septal defects
  • Conotruncal abnormalities
  • Left-sided obstructive lesions
  • Heterotaxy

Whenever possible, the study will recruit "trios" of participants--children, mothers and fathers-- as well as extended family members when appropriate and feasible.

Description

Inclusion Criteria:

• Signed consent form

Exclusion Criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Prospective

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Children's Hospital Medical Center, Cincinnati

Collaborators

National Heart, Lung, and Blood Institute (NHLBI)

Investigators

  • Principal Investigator: Amy Roberts, MD, Childrens Hospital Boston
  • Principal Investigator: Christine Seidman, MD, Harvard Medical School, Boston MA
  • Principal Investigator: Bruce Gelb, MD, Mt Sinai School of Medicine, New York NY
  • Principal Investigator: Martina Brueckner, MD, Yale University
  • Principal Investigator: Martin Tristani-Firouzi, MD, University of Utah
  • Principal Investigator: Yufeng Shen, PhD, Columbia University Medical Center, New York NY
  • Principal Investigator: Shuo Wang, MD, Children's Los Angeles

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

November 15, 2010

Primary Completion (Estimated)

December 1, 2032

Study Completion (Estimated)

December 1, 2032

Study Registration Dates

First Submitted

September 3, 2010

First Submitted That Met QC Criteria

September 3, 2010

First Posted (Estimated)

September 8, 2010

Study Record Updates

Last Update Posted (Actual)

January 30, 2026

Last Update Submitted That Met QC Criteria

January 28, 2026

Last Verified

January 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 701 (Registry Identifier: RSO)
  • 5U01HL098188-03 (U.S. NIH Grant/Contract)
  • U01HL098188 (U.S. NIH Grant/Contract)
  • U01HL098147 (U.S. NIH Grant/Contract)
  • U01HL098163 (U.S. NIH Grant/Contract)
  • U01HL098153 (U.S. NIH Grant/Contract)
  • U01HL098123 (U.S. NIH Grant/Contract)
  • U01HL098162 (U.S. NIH Grant/Contract)

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

Clinical Trials on Congenital Heart Defects

Search Similar Trials

Sponsors and Collaborators

Medical Conditions

Drug Interventions

CROs by country

CROs in Paraguay

Conditions

Rare Diseases

Drug Interventions

Dietary Supplements

Sponsor/Collaborators

Locations

3
Subscribe