Clinical trial NCT06244433: Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
Official title: Risk Stratification of Sudden Unexpected Death in Infant Based on Biomarkers - Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Sudden Infant Death
Sudden Unexplained Infant Death
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
Collaborators: name: AXA Assurances VIE Mutuelle
name: Institut du Thorax
First posted: 2024-02-06
Enrollment: 650
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: The population included will consist of infants who died in the context of SUDI and both their parents. These cases of SUDI will come from the French SUDI registry, which records all cases of SUDI occurring in children under 2 years of age throughout France via a network of referral centers for the management of SUDI.

Brief summary: This is a multicenter genetic study aimed at identifying new genes/variants associated with sudden infant death syndrome (SIDS) based on whole-genome sequencing of family trios

Detailed description: The present project is part of a more global project called BIOMINRISK for which 3 axes will be explored: Genetics (a project which will be detailed here), Neurobiology and Radio-anatomical.

This is a multicenter (15 centers), national, non-randomized, open-label, genetic study. Sudden unexpected death in infant (SUDI) cases will be included (i) partly retrospectively (infants already included in the national French SUDI registry) and (ii) for the other cases, prospectively at the time of care of the deceased infant by the referral center of SUDI participating in the project. The parents making up the trios will be included prospectively.

Once the Sudden infant death syndrome (SIDS) cases have been identified among all the included SUDI cases (following the results of post-mortem examinations), Whole Genome Sequencing (WGS) will be carried out on these SIDS cases and their two parents, in order to identify pathogenic allelic variants. The data generated by this sequencing will then be analyzed using a trio approach to search for de novo variants, i.e. variants present in the infant who died of SIDS and absent from the genome of both parents.

Eligibility criteria: Child Inclusion Criteria

* Death of a child between 0 and 2 years of age due to sudden unexpected death in infant
* Child included in the French SUDI registry with effective participation in the biocollection
* Children who also meet the inclusion criteria for the BIOMINRISK-NEUROBIO (axis 2) and BIOMINRISK-RADIO-ANAT (axis 3) studies in the overall BIOMINRISK project.

Parents Inclusion Criteria

* Biological parents of the child included in the BIOMINRISK study
* Parents who have both signed the consent form for blood collection and inclusion of their samples in the biocollection
* parents beneficiaries of a social security or similar scheme

Child Exclusion Criteria:

* Presence of a known metabolic, genetic or syndromic pathology at the time of death

Parents Exclusion Crtiteria:

* Parent under guardianship
* Presence of a known metabolic, genetic or syndromic pathology

Primary outcomes:
measure: Identification of genetic variants
timeFrame: up to 38 months
Secondary outcomes:
measure: Identification of heterozygous variants or CNVs (copy number variants)
timeFrame: up to 38 months
measure: Identification of new genotype - phenotype correlations
timeFrame: up to 38 months
Other outcomes:
Locations:
city: Nantes
country: France
facility: Nantes University Hospital
state: Loire-Atlantique
city: Amiens
country: France
facility: CHU Amiens
city: Angers
country: France
facility: CHU Angers
city: Besançon
country: France
facility: CHU Besançon
city: Bondy
country: France
facility: APHP - Hôpital Jean Verdier
city: Brest
country: France
facility: CHU Brest
city: Clamart
country: France
facility: APHP - Hôpital Antoine Béclère
city: Grenoble
country: France
facility: CHU Grenoble
city: Lyon
country: France
facility: HCL
city: Marseille
country: France
facility: AP-HM
city: Montpellier
country: France
facility: CHU Montpellier
city: Nancy
country: France
facility: CHRU Nancy
city: Rouen
country: France
facility: CHU Rouen
city: Saint-Étienne
country: France
facility: CHU Saint Etienne
city: Toulouse
country: France
facility: CHU Toulouse
Study officials:
affiliation: Nantes University Hospital
name: Fleur Lorton
role: PRINCIPAL_INVESTIGATOR
References: