Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

Running, not enrolling

Conditions studied: Congenital Heart Defects

In brief

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.

Key facts

Study ID

NCT01196182

Run by

Children's Hospital Medical Center, Cincinnati

People needed

32000

Starts

2010-11-15

Expected to finish

2032-12-01

Last updated by the study team

2026-01-30

Who can join

Age: any, up to 99. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Signed consent form

You may not qualify if…

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

Where it is running

• Children's Hospital Los Angeles — Los Angeles, California, United States
• Stanford University — Palo Alto, California, United States
• University of California, San Francisco — San Francisco, California, United States
• Yale University — New Haven, Connecticut, United States
• Children's Healthcare of Atlanta — Atlanta, Georgia, United States
• Brigham & Women's Hospital — Boston, Massachusetts, United States
• Children's Hospital Boston — Boston, Massachusetts, United States
• University of Michigan Health — Ann Arbor, Michigan, United States
• Cohen Children's Medical Center New York — New Hyde Park, New York, United States
• Mount Sinai School of Medicine — New York, New York, United States
• Columbia University Medical Center — New York, New York, United States
• University of Rochester — Rochester, New York, United States
• Children's Hospital Philadelphia — Philadelphia, Pennsylvania, United States
• University of Utah — Salt Lake City, Utah, United States
• University College London — London, United Kingdom

Full record on ClinicalTrials.gov

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