Characterization and Support for Neurodevelopmental Disorders Associated With Congenital Heart Defects

Trial statusRecruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age3-11
SponsorNantes University Hospital

About this trial

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.

Eligibility criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

Genetic anomaly or malformative syndrome associated with neurodevelopmental abnormalities, identified prior to inclusion

Neurodevelopmental assessment not practicable

Trial design

Design model

Parallel

Treatments tested in this trial

  • Blood sampling

    Other intervention

    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 intervention

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

Treatment groups

1,206 Participants
are divided into 2 treatment groups
Group A: CATAMARAN - Pediatrics - Interdisciplinary programme - Nantes OnlyOther 3 interventions
Group B: CATAMARAN - Pediatrics - Unique neuropsychological assessment Associated centers (including Nantes)Other 3 interventions

Trial outcomes

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.

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.

Time frame
One day
2

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.

Time frame
One day
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).

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.

Time frame
up to 14 days

Other outcomes

Sponsors and contacts

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Nantes University Hospital

Lead sponsor

Angers University

Collaborator