Clinical trial NCT05312177: Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
Official title: Congenital Heart Disease: Impact on Learning and Development in Down Syndrome (CHILD-DS)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Down Syndrome
Congenital Heart Disease
Keywords: Down Syndrome
CHD
Congenital Heart Disease
Pediatric Heart Network
INCLUDE
Lead sponsor: Carelon Research
Sponsor class: OTHER
Collaborators: name: National Heart, Lung, and Blood Institute (NHLBI)
name: National Institutes of Health (NIH)
First posted: 2022-04-05
Enrollment: 273
Sex: ALL
Minimum age (years): 60
Maximum age (years): 155
Standard ages: CHILD
Accepts healthy volunteers: yes
Observational model: CASE_CONTROL
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: PHN RLS Study participants with DS and CAVSD repair from the PHN sites are eligible to participate in this study. Children with a diagnosis of mosaic DS will be excluded, as these forms of DS show different ND trajectories and are usually excluded. While data on mosaic DS were not collected in the RLS Study, we anticipate few if any to have this diagnosis. The DS comparison group will be required to have no major CHD, defined as CHD that requires CHD surgery (a) in the period between birth and recruitment into the CHILD-DS Study or (b) planned for a future date.

Brief summary: The study objective is to compare neurodevelopmental (ND) and behavioral outcomes between children with Down syndrome (DS) who had complete atrioventricular septal defect (CAVSD) repair and children from the same clinical sites with DS without major congenital heart disease (CHD) requiring previous or planned CHD surgery.

Detailed description: We are conducting a multicenter cohort study, ancillary to the Pediatric Heart Network (PHN) Residual Lesion Score (RLS) study, to investigate determinants of ND and behavioral outcomes in children with DS, focusing on the role of CHD surgery. We are including children with DS who had CAVSD repair, as this group comprises 91% of all children with DS in the RLS Study, with similar underlying congenital cardiac defect and surgical repair complexity, allowing our children with DS and CHD to be a homogeneous group. Moreover, one in five individuals with DS is born with an AVSD, a 2000 times higher incidence than in those with normal chromosomes. In addition to recruiting children with DS who had CAVSD repair, we will recruit similarly-aged children with DS who do not have documented major CHD (i.e., CHD requiring previous or planned CHD surgery) to come into the same PHN site for a single study visit consisting of detailed phenotyping by completion of a Health \& Developmental History Intake form, ND and behavioral assessments, and optional collection and storage of saliva specimens in the PHN Biorepository. By building our sample from RLS Study participants and recruiting additional children who had infant CAVSD repair and meet study eligibility criteria, as well as a comparison group from the same PHN sites, we are leveraging rich prospective data in a group of DS children with CAVSD repair from a nationally representative sample, and the expertise of the PHN and Boston Children's Hospital (BCH).

Eligibility criteria: Inclusion Criteria:

Down Syndrome CAVSD Repair Group:

* Trisomy 21
* Male or Female, ages 5 years through 12 years
* Had CAVSD repair within the first year of life
* Parent or guardian and patient willing to comply with protocol and complete all study assessments; parent or guardian willing to provide written informed consent
* Child able to speak and understand English

Down Syndrome Comparison Group

* Trisomy 21
* Male or Female, age 5 years through 12 years
* No major CHD, defined as CHD requiring previous or planned CHD surgery
* Parent or guardian and patient willing to comply with protocol and complete all study assessments; parent or guardian willing to provide written informed consent
* Child able to speak and understand English

Exclusion Criteria:

Both Groups

- Mosaic DS

Down Syndrome CAVSD Repair Group only - Did not have CAVSD repair in the first year of life

Down Syndrome Comparison Group only

- Major CHD requiring previous or planned CHD surgery - i.e., CHD surgery occurring (a) in the period between birth and time of recruitment into the CHILD-DS Study, or (b) planned for a future date.

Primary outcomes:
measure: Neurodevelopmental outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD.
timeFrame: 1 day
measure: Behavioral outcomes between children with DS who had CAVSD repair and children from the same clinical sites with DS without major CHD.
timeFrame: 1 day
measure: Language abilities compared between the children with DS and CAVSD repair and the children with DS without major CHD.
timeFrame: 1 day
measure: Emotional outcomes compared between the children with DS and CAVSD repair and the children with DS without major CHD.
timeFrame: 1 day
measure: Social Communication compared between the children with DS and CAVSD repair and the children with DS without major CHD.
timeFrame: 1 day
Secondary outcomes:
measure: Comorbidities as predictors of neurodevelopment and behavior
timeFrame: 1 day
measure: Sociodemographic factors as predictors of neurodevelopment and behavior
timeFrame: 1 day
Other outcomes:
Locations:
city: Wilmington
country: United States
facility: Alfred I. duPont Hospital for Children
state: Delaware
city: Washington
country: United States
facility: Children's National Hospital
state: District of Columbia
city: Atlanta
country: United States
facility: Children's Healthcare of Atlanta at Egleston
state: Georgia
city: Indianapolis
country: United States
facility: Riley Children's Hospital
state: Indiana
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan Health System/Mott Hospital
state: Michigan
city: Kansas City
country: United States
facility: Children's Mercy Hospital
state: Missouri
city: New York
country: United States
facility: Columbia College of Physicians and Surgeons
state: New York
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Charleston
country: United States
facility: Medical University of South Carolina
state: South Carolina
city: Houston
country: United States
facility: Baylor College of Medicine - Texas Children's Hospital
state: Texas
city: Salt Lake City
country: United States
facility: Primary Children's Hospital
state: Utah
city: Toronto
country: Canada
facility: Hospital for Sick Children
state: Ontario
Study officials:
affiliation: Carelon Research
name: Maria VanRompay, PhD
role: PRINCIPAL_INVESTIGATOR
References: