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

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ClinicalTrials.gov Identifier: NCT01196182
Recruitment Status : Recruiting
First Posted : September 8, 2010
Last Update Posted : April 5, 2017
Information provided by (Responsible Party):

Study Description
Brief 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.

Condition or disease
Congenital Heart Defects

Study Design

Study Type : Observational
Estimated Enrollment : 10000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Study Start Date : November 2010
Estimated Primary Completion Date : July 2020
Estimated Study Completion Date : July 2020

Resource links provided by the National Library of Medicine

U.S. FDA Resources

Groups and Cohorts

Outcome Measures

Biospecimen Retention:   Samples With DNA
Blood; possibly saliva and tissue.

Eligibility Criteria

Information from the National Library of Medicine

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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01196182

Contact: Eileen King 513-803-1819 Eileen.King@cchmc.org

United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: Nhu Tran, RN    323-361-6355    ntran@chla.usc.edu   
Contact: Kelly W Sadamitsu    (323) 361-6490    ksadamitsu@chla.usc.edu   
Principal Investigator: Richard W Kim, MD         
Stanford University Recruiting
Palo Alto, California, United States, 94304
Contact: Daniel Bernstein, MD    650-723-7913    danb@stanford.edu   
Principal Investigator: Daniel Bernstein, MD         
University of California, San Francisco Recruiting
San Francisco, California, United States, 94158
Contact: Deepak Srivastava, MD    415-734-2704    dstrivastava@gladstone.ucsf.edu   
Sub-Investigator: Deepak Srivastava, MD         
United States, Connecticut
Yale University Recruiting
New Haven, Connecticut, United States, 06520
Contact: Nancy Cross    203-737-6835    nancy.cross@yale.edu   
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    mcdonough@genetics.med.harvard.edu   
Contact: Christine Seidman, MD       cseidman@genetics.med.harvard.edu   
Principal Investigator: Christine Seidman, MD         
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Judith Geva, MSW    617-355-4979    judith.geva@cardio.chboston.org   
Contact: Jan Stryker, MS    (857) 218-4628    Janice.Stryker@cardio.chboston.org   
Principal Investigator: Jane Newburger, MD, MPH         
United States, New York
Cohen Children's Medical Center New York Active, not recruiting
New Hyde Park, New York, United States, 11040
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Contact: Meghan MacNeal    212-241-6012    meghan.macneal@mssm.edu   
Contact: Bruce D. Gelb, MD    (212) 241-8662    bruce.gelb@mssm.edu   
Principal Investigator: Bruce Gelb, MD         
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Roslyn Yee    212-305-9391    rsy2104@columbia.edu   
Principal Investigator: Wendy K Chung, MD, PHD         
Principal Investigator: Dorothy Warburton, PHD         
University of Rochester Recruiting
Rochester, New York, United States, 14642
Contact: Eileen Taillie, MGS    585-273-4168    Eileen_Taillie@URMC.Rochester.edu   
Contact: George A. Porter, MD, PhD    (585) 276-4769    george_porter@urmc.rochester.edu   
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    garbarini@email.chop.edu   
Contact: Stacy Woyciechowski, MS, CGC    (267) 426-7484    woyciechowski@email.chop.edu   
Principal Investigator: Elizabeth Goldmuntz, MD         
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84113
Contact: Martin Tristani-Firouzi, MD    801-662-5443    martin.tristani@utah.edu   
Principal Investigator: Martin Tristani-Firouzi, MD         
United Kingdom
University College London Completed
London, United Kingdom, WC1N3JH
Sponsors and Collaborators
Children's Hospital Medical Center, Cincinnati
National Heart, Lung, and Blood Institute (NHLBI)
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
More Information

Additional Information:
Responsible Party: Children's Hospital Medical Center, Cincinnati
ClinicalTrials.gov Identifier: NCT01196182     History of Changes
Other Study ID Numbers: 701
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 )
First Posted: September 8, 2010    Key Record Dates
Last Update Posted: April 5, 2017
Last Verified: April 2017

Additional relevant MeSH terms:
Heart Diseases
Heart Defects, Congenital
Cardiovascular Diseases
Cardiovascular Abnormalities
Congenital Abnormalities