Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

This study is currently recruiting participants. (see Contacts and Locations)
Verified September 2014 by New England Research Institutes
Information provided by (Responsible Party):
New England Research Institutes Identifier:
First received: September 3, 2010
Last updated: April 16, 2015
Last verified: September 2014

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.

Congenital Heart Defects

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)

Resource links provided by NLM:

Further study details as provided by New England Research Institutes:

Biospecimen Retention:   Samples With DNA

Blood; possibly saliva and tissue.

Estimated Enrollment: 10000
Study Start Date: November 2010
Estimated Study Completion Date: July 2015
Estimated Primary Completion Date: July 2015 (Final data collection date for primary outcome measure)

Genders Eligible for Study:   Both
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.


Inclusion Criteria:

• Signed consent form

Exclusion Criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01196182

Contact: Kathleen Cucchi 617.972.3015

United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: Nhu Tran, RN    323-361-6355   
Contact: Kelly W Sadamitsu    (323) 361-6490   
Principal Investigator: Richard W Kim, MD         
United States, Connecticut
Yale University Recruiting
New Haven, Connecticut, United States, 06520
Contact: Nancy Cross    203-737-6835   
Principal Investigator: Martina Brueckner, MD         
Principal Investigator: Richard P Lifton, MD, PHD         
United States, Massachusetts
Brigham & Women's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Barbara McDonough, RN    617-432-1006   
Contact: Christine Seidman, MD   
Principal Investigator: Christine Seidman, MD         
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Judith Geva, MSW    617-355-4979   
Contact: Jan Stryker, MS    (857) 218-4628   
Principal Investigator: Jane Newburger, MD, MPH         
United States, New York
Cohen Children's Medical Center New York Recruiting
New Hyde Park, New York, United States, 11040
Contact: Dorota Gruber, MS, GC    718-470-8358   
Contact: Nancy Stellato, RN    (718) 470-3415   
Principal Investigator: Angela Romano-Adesman, MD         
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Roslyn Yee    212-305-9391   
Principal Investigator: Wendy K Chung, MD, PHD         
Principal Investigator: Dorothy Warburton, PHD         
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Contact: Meghan MacNeal    212-241-6012   
Contact: Bruce D. Gelb, MD    (212) 241-8662   
Principal Investigator: Bruce Gelb, MD         
University of Rochester Recruiting
Rochester, New York, United States, 14642
Contact: Eileen Taillie, MGS    585-273-4168   
Contact: George A. Porter, MD, PhD    (585) 276-4769   
Principal Investigator: George A Porter, MD, PHD         
United States, Pennsylvania
Children's Hospital Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Jennifer Garbarini, MS, CGC    215-590-1473   
Contact: Stacy Woyciechowski, MS, CGC    (267) 426-7484   
Principal Investigator: Elizabeth Goldmuntz, MD         
United Kingdom
University College London Recruiting
London, United Kingdom, WC1N3JH
Contact: Lucy Panesar    44(0)20 3108 2353   
Contact: John Deanfield, MD    44 (207) 405-9200 ext 5243   
Principal Investigator: John Deanfield, MD         
Principal Investigator: Alessandro Giardini, MD         
Sponsors and Collaborators
New England Research Institutes
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: Elizabeth Goldmuntz, MD Childrens Hospital of Philadelphia PA
Principal Investigator: Wendy Chung, MD, PhD Columbia University Medical Center, New York NY
Principal Investigator: Dorothy Warburton, PhD Columbia University Medical Center, New York NY
Principal Investigator: Richard Lifton, MD, PhD Yale University
  More Information

Additional Information:
No publications provided

Responsible Party: New England Research Institutes Identifier: NCT01196182     History of Changes
Other Study ID Numbers: 701, 5U01HL098188-03, U01HL098188, U01HL098147, U01HL098163, U01HL098153, U01HL098123, U01HL098162
Study First Received: September 3, 2010
Last Updated: April 16, 2015
Health Authority: United States: Federal Government

Additional relevant MeSH terms:
Heart Defects, Congenital
Heart Diseases
Cardiovascular Abnormalities
Cardiovascular Diseases
Congenital Abnormalities processed this record on August 27, 2015