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NCT Number: NCT06442592

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.

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Key information

Age range

3 year–11 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Chu Brest, Brest, Brittany Region, France

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Blood sampling

Other

An EDTA blood sample will be taken from the children and their two parents. Sample volume will be 2 x 3mL.

Assessment of neurodevelopment (CA)

Diagnostic Test

The children will be seen by a neuropsychologist, who will then determine whether or not they have neurodevelopmental disorders.

Assessment of neurodevelopment (Nantes)

Diagnostic Test

The children will be seen by a multidisciplinary team (including a neuropsychologist), who will then determine whether or not they have neurodevelopmental disorders.

Assessment of the parental stress

Other

Parents' parental stress will be assessed using the Parental Stress Index (PSI) questionnaire.

Primary outcomes

  1. Assessment of the prevalence of neurodevelopmental disorders in children aged 3-11 years with critical congenital heart defects.

    Time frame: 14 days

Secondary outcomes

  1. Identify rare genetic variants associated with genome-wide neurodevelopmental disorders in patients with congenital heart defects.

    Time frame: One day

    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.

  2. Identify frequent genetic variants associated with genome-wide neurodevelopmental disorders in patients with congenital heart defects.

    Time frame: One day

    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.

  3. 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).

    Time frame: up to 14 days

  4. Evaluate and describe the neurodevelopmental domains affected in the pediatric population of Nantes (Multidisciplinary assessment).

    Time frame: up to 14 days

    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.

  5. Assessment of the quality of life and psychopathological aspects of the child as well as parental stress.

    Time frame: up to 14 days

    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).

  6. Assessment of diagnostic accuracy (of NDD) provided by an innovative multidisciplinary approach.

    Time frame: up to 14 days

    Comparison of TND frequency in Nantes versus associated centers and description of differences between centers

  7. 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).

    Time frame: up to 14 days

Study contacts

Contact information is provided by the study sponsor or research team.

Alban Baruteau

CONTACT

[email protected]

02 40 08 77 42

Sponsors and collaborators

Lead sponsor

Nantes University Hospital

Other

Collaborators

  • Angers University

Registry information

Official study title

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

Acronym: CATAMARAN Ped

Important dates

Study start
2024
Primary completion
2027
Study completion
2027
First posted
Jun 4, 2024
Registry last updated
Apr 3, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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