Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)



Status:Recruiting
Conditions:Cardiology
Therapuetic Areas:Cardiology / Vascular Diseases
Healthy:No
Age Range:Any - 99
Updated:1/27/2019
Start Date:November 2010
End Date:July 2020
Contact:Eileen King, PhD
Email:Eileen.King@cchmc.org
Phone:513-803-1819

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Trial Summary
Trial Overview
Inclusion Criteria
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.


Inclusion Criteria:

• Signed consent form

Exclusion Criteria:

- Isolated patent foramen ovale

- Isolated prematurity-associated patent ductus arteriosus
We found this trial at
13
sites
University College London
London, WC1E 6BT
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Brigham and Women's Hosp
75 Francis street
Boston, Massachusetts 02115
(617) 732-5500
Principal Investigator: Christine Seidman, MD
Phone: 617-432-1006
Brigham and Women's Hosp Boston’s Brigham and Women’s Hospital (BWH) is an international leader in...
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Boston, MA
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Childrens Hospital Los Angeles
4650 Sunset Blvd
Los Angeles, California 90027
 (323) 660-2450
Principal Investigator: Richard W Kim, MD
Phone: 323-361-1912
Childrens Hospital Los Angeles Children's Hospital Los Angeles is a 501(c)(3) nonprofit hospital for pediatric...
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Los Angeles, CA
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Children's Hospital of Philadelphia
South 34th Street
Philadelphia, Pennsylvania 19104
 215-590-1000
Principal Investigator: Elizabeth Goldmuntz, MD
Phone: 215-590-1473
Children's Hospital of Philadelphia Since its start in 1855 as the nation's first hospital devoted...
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Philadelphia, PA
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University of Rochester
60 Crittenden Blvd # 70
Rochester, New York 14642
(585) 275-2121
Principal Investigator: George A Porter, MD, PHD
Phone: 585-273-4168
University of Rochester The University of Rochester is one of the country's top-tier research universities....
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Rochester, NY
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University of Utah
201 Presidents Circle
Salt Lake City, Utah 84108
801) 581-7200
Principal Investigator: Martin Tristani-Firouzi, MD
Phone: 801-587-8975
University of Utah Research is a major component in the life of the U benefiting...
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Salt Lake City, UT
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Children's Hospital Boston
Boston, Massachusetts 02115
Principal Investigator: Amy Roberts, MD
Phone: 617-355-4979
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Boston, MA
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Yale University
New Haven, Connecticut 6520
(203) 432-4771
Principal Investigator: Martina Brueckner, MD
Phone: 203-737-6835
Yale University Yale's roots can be traced back to the 1640s, when colonial clergymen led...
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New Haven, CT
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Cohen Children's Medical Center of New York
New Hyde Park, New York 11040
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New Hyde Park, NY
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Mount Sinai School of Medicine
New York, New York 10029
Principal Investigator: Bruce Gelb, MD
Phone: 212-241-4321
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New York, NY
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Columbia University Medical Center
630 W 168th St
New York, New York
212-305-2862
Principal Investigator: Wendy K Chung, MD, PHD
Phone: 212-342-3101
Columbia University Medical Center Situated on a 20-acre campus in Northern Manhattan and accounting for...
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New York, NY
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Stanford University
Palo Alto, California 94304
Principal Investigator: Daniel Bernstein, MD
Phone: 650-724-4661
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Palo Alto, CA
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University of California at San Francisco
San Francisco, California 94143
Phone: 415-734-2720
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San Francisco, CA
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