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Clinical Trial Details — Status: Completed

Administrative data

NCT number NCT03070197
Other study ID # 2016-6315
Secondary ID 5U01HL131003-02
Status Completed
Phase
First received
Last updated
Start date September 18, 2017
Est. completion date June 29, 2020

Study information

Verified date January 2020
Source Children's Hospital Medical Center, Cincinnati
Contact n/a
Is FDA regulated No
Health authority
Study type Observational

Clinical Trial Summary

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.


Recruitment information / eligibility

Status Completed
Enrollment 196
Est. completion date June 29, 2020
Est. primary completion date June 29, 2020
Accepts healthy volunteers No
Gender All
Age group 8 Years and older
Eligibility 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

Study Design


Related Conditions & MeSH terms


Intervention

Other:
Exposure of interest: Brain MRI
Brain MRI will be conducted in all participants
Exposure of interest: neurodevelopmental assessments
neurodevelopmental testing will be conducted in all participants.

Locations

Country Name City State
United States Children's Hospital Boston Boston Massachusetts
United States Children's Hospital Los Angeles Los Angeles California
United States Yale University New Haven Connecticut
United States Icahn School of Medicine at Mt. Sinai New York New York
United States Children's Hospital Philadelphia Philadelphia Pennsylvania
United States University of Rochester Rochester New York
United States University of Utah Salt Lake City Utah
United States University of California, San Francisco San Francisco California

Sponsors (2)

Lead Sponsor Collaborator
Children's Hospital Medical Center, Cincinnati National Heart, Lung, and Blood Institute (NHLBI)

Country where clinical trial is conducted

United States, 

Outcome

Type Measure Description Time frame Safety issue
Primary Neurodevelopment and behavioral health assessment The investigators will compare groups with respect to achievement, IQ, learning disability, specific neuropsychological domains (e.g., memory, attention, executive functions, and visual-spatial/motor integration), adaptive function, behavior, social cognition and symptoms of autism spectrum disorder, and quality of life. The primary study outcome for this aim will be the WRAT4 composite score. Day 1
Secondary Abnormalities in brain structure and microstructure on MRI The investigators will compare the groups with respect to measured and derived parameters including, but not limited to, 1) regional volumetric and cortical thickness, 2) regional surface metrics, 3) voxel-based DTI eigenvectors and apparent diffusion coefficient (ADC) values, and resting state principal component analysis Day 1
See also
  Status Clinical Trial Phase
Completed NCT05926661 - Support Tool for Families of High-Risk Children With Heart Disease During Hospital Admission and After Discharge N/A
Completed NCT04442685 - The Swiss Registry for Heart Diseases in Children Living in Switzerland. SPHC
Active, not recruiting NCT04667455 - Improving Care for Children With Congenital Heart Disease. N/A

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