Exploring the Relationship Between Advanced Multimodal Brain MRI Phenotypes, Genes and Cognitive Outcome in Adults With CHD
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Boston Children's Hospital
- Enrollment
- 225
- Locations
- 1
- Primary Endpoint
- Delis-Kaplan Executive Function Scale (D-KEFS) composite score;
Study Overview
Brief 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).
Detailed 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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Other
- Masking
- None
Eligibility Criteria
- Ages
- 24 Years to 35 Years (Adult)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
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
Arms & Interventions
Brain MRI
Obtain Brain MRI in adults with congenital heart disease and age/sex matched controls
Intervention: MRI (Diagnostic Test)
Outcomes
Primary Outcomes
Delis-Kaplan Executive Function Scale (D-KEFS) composite score;
Time Frame: Baseline
measure of executive function
Secondary Outcomes
No secondary outcomes reported
Investigators
Michelle Gurvitz
Associate Professor
Boston Children's Hospital