Characterization and Support for Neurodevelopmental Disorders Associated With Congenital Heart Defects (CATAMARAN Ped)

CATAMARAN - Pediatrics : Characterization and Support for Neurodevelopmental Disorders Associated With Congenital Heart Defects

The leading cause of birth defects, Congenital Heart Defects (CHD) affect 12 million people worldwide and 41,000 newborns/year in Europe. It's a major cause of life-long morbidity and mortality, and a crucial public health issue. More than 50% of childs born with critical CHD will develop Neurodevelopmental Disorders (NDs), requiring specific care and impairing quality of life. NDs corresponds to early and lasting disturbances in cognitive, affective and behavioral development, linked to abnormalities in brain development. They are heterogeneous, affecting language, learning, motor skills, intellectual efficiency, social cognition, attention, memory and executive functions, and are associated with psychosocial difficulties (adaptive behavior, social interactions). This hidden handicap is the main long-term sequels of CHD, even before cardiovascular sequels, in individuals who often underwent multiple heart operations in early childhood. NDs concern not only complex CHD, but also simple CHD repaired in childhood and considered cured.

The origin of TND associated with CHD is largely unknown. To date, few genetic or environmental causes have been clearly identified, but recent work has suggested that a common origin may link cardiac malformation and neurodevelopmental abnormality.

The CATAMARAN - Pediatrics project is designed to detect potential neurodevelopmental delays associated with CHD as early as age 3, and to identify individual susceptibility factors involved in the occurrence of NDs in CHD children.

Study Overview

• Status: Recruiting
• Conditions: Congenital Heart Defects; Neurodevelopmental Disorder
• Intervention / Treatment: Other: Blood sampling; Diagnostic test: Assessment of neurodevelopment (Nantes); Other: Assessment of the parental stress; Diagnostic test: Assessment of neurodevelopment (CA)

• Study Type: Interventional
• Enrollment (Estimated): 1206
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Alban Baruteau; Phone Number: 02 40 08 77 42; Email: albanelouen.baruteau@chu-nantes.fr

Study Locations

• France
  • Brittany Region
    • Brest, Brittany Region, France, 29200
      • Recruiting
      • CHU Brest
      • Contact: Guillaume DEVERRIERE; Email: Guillaume.deverriere@chu-brest.fr
      • Principal Investigator: Guillaume DEVERRIERE
    • Rennes, Brittany Region, France, 35000
      • Recruiting
      • Chu Rennes
      • Principal Investigator: Clémence Le Seven
  • Loire-Atlantique
    • Nantes, Loire-Atlantique, France, 44000
      • Recruiting
      • CHU Nantes
      • Contact: Alban Baruteau; Phone Number: 02 40 08 77 42; Email: albanelouen.baruteau@chu-nantes.fr
      • Principal Investigator: Alban Baruteau
  • Maine-et-Loire
    • Angers, Maine-et-Loire, France, 49000
      • Recruiting
      • CHU Angers
      • Principal Investigator: Anne-Sophie Lety
  • Val de Loire
    • Tours, Val de Loire, France, 37000
      • Recruiting
      • CHU Tours
      • Principal Investigator: Bruno Lefort

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child
• Accepts Healthy Volunteers: No

Description

Inclusion Criteria:

• Child (aged 3 to 11) with critical MCC operated on for heart surgery during the first three months of life
• Parents and child affiliated with or benefiting from a social security or similar scheme
• Parents' and child's good understanding of the French language
• Free, informed and written consent of both parents for themselves and for the child
• Free, informed and written consent of the child aged 6 and over
• Biological parents

Exclusion Criteria:

• Genetic anomaly or malformative syndrome associated with neurodevelopmental abnormalities, identified prior to inclusion
• Neurodevelopmental assessment not practicable

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Non-Randomized
• Interventional Model: Parallel Assignment
• Masking: None (Open Label)

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Other: CATAMARAN - Pediatrics - Interdisciplinary programme - Nantes Only; The study population will consist of 201 children aged 3 to 11 and their two parents.	Other: Blood sampling; An EDTA blood sample will be taken from the children and their two parents. Sample volume will be 2 x 3mL.; Diagnostic test: Assessment of neurodevelopment (Nantes); The children will be seen by a multidisciplinary team (including a neuropsychologist), who will then determine whether or not they have neurodevelopmental disorders.; Other: Assessment of the parental stress; Parents' parental stress will be assessed using the Parental Stress Index (PSI) questionnaire.
Other: CATAMARAN - Pediatrics - Unique neuropsychological assessment Associated centers (including Nantes); The study population will consist of 201 children aged 3 to 11 and their two parents.	Other: Blood sampling; An EDTA blood sample will be taken from the children and their two parents. Sample volume will be 2 x 3mL.; Other: Assessment of the parental stress; Parents' parental stress will be assessed using the Parental Stress Index (PSI) questionnaire.; Diagnostic test: Assessment of neurodevelopment (CA); The children will be seen by a neuropsychologist, who will then determine whether or not they have neurodevelopmental disorders.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Time Frame
Assessment of the prevalence of neurodevelopmental disorders in children aged 3-11 years with critical congenital heart defects.	14 days

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Identify rare genetic variants associated with genome-wide neurodevelopmental disorders in patients with congenital heart defects.	The presence of rare genetic variants associated with neurodevelopmental disorders will be determined by a 30X whole genome sequencing approach based on the association study of congenital heart defects with neurodevelopmental disorders versus congenital heart defects without neurodevelopmental disorders.	One day
Identify frequent genetic variants associated with genome-wide neurodevelopmental disorders in patients with congenital heart defects.	The presence of frequent genetic variants associated with neurodevelopmental disorders will be determined by a 30X whole genome sequencing approach based on the association study of congenital heart defects with neurodevelopmental disorders versus congenital heart defects without neurodevelopmental disorders.	One day
Assessment of the prevalence of neurodevelopmental disorders in children with critical congenital heart defects in each age subgroup (3-5, 6-8, and 9-11 years).		up to 14 days
Assessment of the quality of life and psychopathological aspects of the child as well as parental stress.	Proportion of children with impaired quality of life, psychopathological difficulties and proportion of adults with parental stress, compared with the test norm (-1.5 standard deviation or 90 percentile).	up to 14 days
Assessment of diagnostic accuracy (of NDD) provided by an innovative multidisciplinary approach.	Comparison of TND frequency in Nantes versus associated centers and description of differences between centers	up to 14 days
Describe the different types of neurodevelopmental disorders (number and nature of neurodevelopmental domains affected) in each age subgroup (intelligence, oral language, motor skills, school learning, executive functions, social interactions).		up to 14 days
Evaluate and describe the neurodevelopmental domains affected in the pediatric population of Nantes (Multidisciplinary assessment).	Functional diagnosis of different types of NDD defined by at least one score deficient in relation to the test norm (-1.5 standard deviation or 90 percentile) in each age subgroup.	up to 14 days

Collaborators and Investigators

• Sponsor: Nantes University Hospital
• Collaborators: University of Angers - Pays de la Loire psychology laboratory

Study record dates

Study Major Dates

• Study Start (Actual): July 8, 2024
• Primary Completion (Estimated): July 8, 2027
• Study Completion (Estimated): August 8, 2027

Study Registration Dates

• First Submitted: May 29, 2024
• First Submitted That Met QC Criteria: May 29, 2024
• First Posted (Actual): June 4, 2024

Study Record Updates

• Last Update Posted (Actual): April 3, 2026
• Last Update Submitted That Met QC Criteria: March 30, 2026
• Last Verified: March 1, 2026

More Information

Terms related to this study

• Keywords: Genetics; Congenital Heart Defects; Neurodevelopmental Disorder
• Additional Relevant MeSH Terms: Cardiovascular Diseases; Mental Disorders; Heart Diseases; Congenital Abnormalities; Cardiovascular Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neurodevelopmental Disorders; Heart Defects, Congenital; Investigative Techniques; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Surgical Procedures, Operative; Blood Specimen Collection
• Other Study ID Numbers: RC23_0548; 2024-A00428-39 (Other Identifier: ANSM (IDRCB))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No