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Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

NCT01196182 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 32000

Last updated 2026-01-30

No results posted yet for this study

Summary

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.

Conditions

  • Congenital Heart Defects

Sponsors & Collaborators

  • National Heart, Lung, and Blood Institute (NHLBI)

    collaborator NIH

  • Children's Hospital Medical Center, Cincinnati

    lead OTHER

Principal Investigators

  • Amy Roberts, MD · Childrens Hospital Boston

  • Christine Seidman, MD · Harvard Medical School, Boston MA

  • Bruce Gelb, MD · Mt Sinai School of Medicine, New York NY

  • Martina Brueckner, MD · Yale University

  • Martin Tristani-Firouzi, MD · University of Utah

  • Yufeng Shen, PhD · Columbia University Medical Center, New York NY

  • Shuo Wang, MD · Children's Los Angeles

Eligibility

Max Age
99 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2010-11-15
Primary Completion
2032-12-31
Completion
2032-12-31

Countries

  • United States
  • United Kingdom

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01196182 on ClinicalTrials.gov