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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 : August 31, 2023
Sponsor:
Collaborator:
National Heart, Lung, and Blood Institute (NHLBI)
Information provided by (Responsible Party):
Children's Hospital Medical Center, Cincinnati

Study Description
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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
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Study Type : Observational
Estimated Enrollment : 10000 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Actual Study Start Date : November 15, 2010
Estimated Primary Completion Date : December 2025
Estimated Study Completion Date : December 2025

Resource links provided by the National Library of Medicine


Groups and Cohorts
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Outcome Measures
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Biospecimen Retention:   Samples With DNA
Blood; possibly saliva and tissue.

Eligibility Criteria
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Information from the National Library of Medicine

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, Learn About Clinical Studies.


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Ages Eligible for Study:   up to 99 Years   (Child, Adult, Older Adult)
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.

Criteria

Inclusion Criteria:

• Signed consent form

Exclusion Criteria:

  • Isolated patent foramen ovale
  • Isolated prematurity-associated patent ductus arteriosus
Contacts and Locations
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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


Contacts
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Contact: Eileen King, PhD B2BProgram@cchmc.org

Locations
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United States, California
Children's Hospital Los Angeles Recruiting
Los Angeles, California, United States, 90027
Contact: Shreya Anand    323-361-1432    sanand@chla.usc.edu   
Principal Investigator: Jon Cleveland, MD         
Stanford University Completed
Palo Alto, California, United States, 94304
University of California, San Francisco Completed
San Francisco, California, United States, 94158
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         
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   
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   
Principal Investigator: Amy Roberts, MD         
United States, New York
Cohen Children's Medical Center New York Completed
New Hyde Park, New York, United States, 11040
Mount Sinai School of Medicine Recruiting
New York, New York, United States, 10029
Contact: Priyal Agrawal    212-241-4321    priyal.agrawal@mssm.edu   
Principal Investigator: Bruce Gelb, MD         
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Emily Griffin    212-342-3101    eg2871@cumc.columbia.edu   
Principal Investigator: Wendy K Chung, MD, PHD         
University of Rochester Completed
Rochester, New York, United States, 14642
United States, Pennsylvania
Children's Hospital Philadelphia Completed
Philadelphia, Pennsylvania, United States, 19104
United States, Utah
University of Utah Recruiting
Salt Lake City, Utah, United States, 84113
Contact: Kristin Konery    801-213-7618    Kristin.Konery@hsc.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)
Investigators
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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: Martin Tristani-Firouzi, MD University of Utah
Principal Investigator: Wendy Chung, MD, PhD Columbia University Medical Center, New York NY
Principal Investigator: Jon Cleveland Children's Los Angeles
More Information
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Additional Information:

Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Lahrouchi N, Postma AV, Salazar CM, De Laughter DM, Tjong F, Piherova L, Bowling FZ, Zimmerman D, Lodder EM, Ta-Shma A, Perles Z, Beekman L, Ilgun A, Gunst Q, Hababa M, Skoric-Milosavljevic D, Stranecky V, Tomek V, de Knijff P, de Leeuw R, Robinson JY, Burn SC, Mustafa H, Ambrose M, Moss T, Jacober J, Niyazov DM, Wolf B, Kim KH, Cherny S, Rousounides A, Aristidou-Kallika A, Tanteles G, Ange-Line B, Denomme-Pichon AS, Francannet C, Ortiz D, Haak MC, Ten Harkel AD, Manten GT, Dutman AC, Bouman K, Magliozzi M, Radio FC, Santen GW, Herkert JC, Brown HA, Elpeleg O, van den Hoff MJ, Mulder B, Airola MV, Kmoch S, Barnett JV, Clur SA, Frohman MA, Bezzina CR. Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy. J Clin Invest. 2021 Mar 1;131(5):e142148. doi: 10.1172/JCI142148.

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Responsible Party: Children's Hospital Medical Center, Cincinnati
ClinicalTrials.gov Identifier: NCT01196182    
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: August 31, 2023
Last Verified: August 2023
Additional relevant MeSH terms:
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Heart Diseases
Heart Defects, Congenital
Cardiovascular Diseases
Cardiovascular Abnormalities
Congenital Abnormalities