Exploring the Relationship Between Advanced Multimodal Brain MRI Phenotypes, Genes and Cognitive Outcome in Adults With CHD

  • STATUS
    Recruiting
  • End date
    Jun 16, 2026
  • participants needed
    225
  • sponsor
    Boston Children's Hospital
Updated on 16 October 2022
Accepts healthy volunteers

Summary

The main purpose of this proposal is to perform novel MRI analyses to determine the brain organizational changes associated with altered executive function and the modulating role of variants in neuroresilience and hypoxia response genes in adults with d-transposition of the great arteries (d-TGA).

Description

Aim 1 is structured to determine the relationship between sulcal patterns(measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2 or ε4 alleles, or (b) damaging variants in hypoxia response genes.

Aim 2 is designed to determine the relationship between structural connectivity using rich club (measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2 or ε4 alleles or (b) damaging variants in hypoxia response genes.

In Aim 3, the investigators will determine the relationship between functional connectivity using rich club (measured by MRI) and executive function in adults with d-TGA and if this relationship is modified by (a) presence of neuroresilience gene ApoE ε2or ε4 alleles or (b) damaging variants in hypoxia response genes.

Details
Condition Congenital Heart Disease
Treatment MRI
Clinical Study IdentifierNCT05258981
SponsorBoston Children's Hospital
Last Modified on16 October 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Persons who participated in the Boston circulatory arrest, pH and Hematocrit studies at Boston Childrens Hospital as children (n~300)
Normally-developed age- and sex-matched young adults who are able to provide informed consent to undergo the MRI portion of the study and limited neuropsychological evaluation (IQ assessment as well as neuropsychological tests for which normative references are not available)

Exclusion Criteria

For controls - inability to complete the MRI (implanted metal, claustrophobia, personal history of mental illness, brain injury, prior brain intervention)
Intellectual impairment precluding completion of the study questionnaires independently
Unable to speak and read English fluently
Clear my responses

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