Genomic Basis of Neurodevelopmental and Brain Outcomes in Congenital Heart Disease (CHD Brain and Genes)

Description

Approximately 400 Congenital heart disease patients will participate in the research study which will include one or more research visits for neurodevelopmental testing, brain MRI, and collection of medical history including previously collected genetic sequencing results. The investigators will explore the association between genetic variants, neurodevelopmental deficits, and brain MRI endophenotype. Analyses will compare groups with and without deleterious de novo mutations.

Study Start Date

September, 01 2017

Estimated Completion Date

December 2022

Interventions

  • Other: Exposure of interest: Brain MRI
  • Other: Exposure of interest: neurodevelopmental assessments

Study ID

Children's Hospital Medical Center, Cincinnati -- 2016-6315

Status

Recruiting

Trial ID

NCT03070197

Study Type

Observational

Trial Phase

N/A

Enrollment Quota

400

Sponsor

Children's Hospital Medical Center, Cincinnati

Inclusion Criteria

    1. Subjects in whom whole exome sequencing or whole genome sequencing has already been performed, either during the CHD GENES study or, for new centers (Utah or USCF/Stanford), after trios in existing biobanks undergo analysis by whole exome sequencing or whole genome sequencing during the Pediatric Cardiac Genomic Consortium 2 grant cycle 2. Presence of deleterious mutations (damaging de novo mutations or stringently defined deleterious missense mutations) identified on sequencing (Cases) OR absence of such known deleterious mutations (Controls) 3. Males or females, age ?8 years 4. Diagnosis of congenital heart disease 5. Informed consent obtained

Exclusion Criteria

    1. History of cardiac transplant 2. A cardiac surgical procedure within 6 months of enrollment 3. Known clinical genetic syndrome, characterized as a monogenic condition with an identified gene associated with abnormalities of the brain structure or function, structural heart disease, and potentially other associated features. 4. Presence of CNV known to be clinically pathogenic. Variants will be classified as pathogenic using accepted types of variant evidence (e.g., population data, computational data, functional data, segregation data) as detailed in the American College of Medical Genetics and Genomics " Standards and Guidelines for the interpretation of sequence variants" (Richards et al, GIM 2015). 5. Overwhelming acquired brain injury, such as a major stroke or severe ischemic injury, that would overshadow the effect of a genetic mutation on outcome in the opinion of the center investigator 6. Lack of reading fluency in English or Spanish

Gender

All

Ages

8 Years and older

Accepts Healthy Volunteers

No

Study Locations and Contact Information (26)

Study Location Distance Name Phone Email
Childrens Hospital Boston - Boston, Massachusetts 2.6 miles Judith Geva MSW 617-355-4979 judith.geva@cardio.chboston.org
Childrens Hospital Boston - Boston, Massachusetts 2.6 miles Judith Geva MSW 617-355-4979 judith.geva@cardio.chboston.org
Childrens Hospital Boston - Boston, Massachusetts 2.6 miles Judith Geva MSW 617-355-4979 judith.geva@cardio.chboston.org
Childrens Hospital Boston - Boston, Massachusetts 2.6 miles Judith Geva MSW 617-355-4979 judith.geva@cardio.chboston.org
Yale University - New Haven, Connecticut 119.2 miles Nancy Cross 203-737-6835 nancy.cross@yale.edu
Icahn School of Medicine at Mt Sinai - New York, New York 183.2 miles Meghan MacNeal 212-241-6012 meghan.macneal@mssm.edu
Icahn School of Medicine at Mt Sinai - New York, New York 183.2 miles Meghan MacNeal 212-241-6012 meghan.macneal@mssm.edu
Icahn School of Medicine at Mt Sinai - New York, New York 183.2 miles Meghan MacNeal 212-241-6012 meghan.macneal@mssm.edu
Icahn School of Medicine at Mt Sinai - New York, New York 183.2 miles Meghan MacNeal 212-241-6012 meghan.macneal@mssm.edu
Childrens Hospital Philadelphia - Philadelphia, Pennsylvania 270.8 miles Stacy Woyciechowski MS CGC 267-426-7484 woyciechowsk@email.chop.edu
Childrens Hospital Philadelphia - Philadelphia, Pennsylvania 270.8 miles Stacy Woyciechowski MS CGC 267-426-7484 woyciechowsk@email.chop.edu
Childrens Hospital Philadelphia - Philadelphia, Pennsylvania 270.8 miles Stacy Woyciechowski MS CGC 267-426-7484 woyciechowsk@email.chop.edu
Childrens Hospital Philadelphia - Philadelphia, Pennsylvania 270.8 miles Stacy Woyciechowski MS CGC 267-426-7484 woyciechowsk@email.chop.edu
University of Rochester - Rochester, New York 335.8 miles Eileen Taillie MGS 585-273-4168 Eileen_Taillie@URMC.Rochester.edu
University of Rochester - Rochester, New York 335.8 miles Eileen Taillie MGS 585-273-4168 Eileen_Taillie@URMC.Rochester.edu
University of Rochester - Rochester, New York 335.8 miles Eileen Taillie MGS 585-273-4168 Eileen_Taillie@URMC.Rochester.edu
University of Rochester - Rochester, New York 335.8 miles Eileen Taillie MGS 585-273-4168 Eileen_Taillie@URMC.Rochester.edu
University of Utah - Salt Lake City, Utah 2,093.2 miles Linda Lambert 801-213-7610 linda.lambert@hsc.utah.edu
Childrens Hospital Los Angeles - Los Angeles, California 2,595.3 miles Nhu Tran RN 323-361-6355 ntran@chla.usc.edu
Childrens Hospital Los Angeles - Los Angeles, California 2,595.3 miles Nhu Tran RN 323-361-6355 ntran@chla.usc.edu
Childrens Hospital Los Angeles - Los Angeles, California 2,595.3 miles Nhu Tran RN 323-361-6355 ntran@chla.usc.edu
Childrens Hospital Los Angeles - Los Angeles, California 2,595.3 miles Nhu Tran RN 323-361-6355 ntran@chla.usc.edu
University of California San Francisco - San Francisco, California 2,696.4 miles Shanelle Nebre 415-502-4798 shanelle.nebre@gladstone.ucsf.edu
University of California San Francisco - San Francisco, California 2,696.4 miles Shanelle Nebre 415-502-4798 shanelle.nebre@gladstone.ucsf.edu
University of California San Francisco - San Francisco, California 2,696.4 miles Shanelle Nebre 415-502-4798 shanelle.nebre@gladstone.ucsf.edu
University of California San Francisco - San Francisco, California 2,696.4 miles Shanelle Nebre 415-502-4798 shanelle.nebre@gladstone.ucsf.edu

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