Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome

Recruiting

• Conditions: Sudden Unexplained Infant Death; Sudden Infant Death
• Interventions: Genetic: whole genome sequencing

• Registration Number: NCT06244433
• Lead Sponsor: Nantes University Hospital

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.

Study Timeline

• Study First Submitted: 2024-01-25
• Study First Submitted QC: 2024-02-05
• Study First Posted: 2024-02-06
• Study Start: 2024-08-27
• Status Verified: 2024-09
• Last Update Submitted: 2025-01-29
• Last Update Posted: 2025-01-31
• Primary Completion: 2026-08
• Study Completion: 2027-10

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 650

Inclusion Criteria

Not provided

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Arm && Interventions

Group	Intervention	Description
Parents	whole genome sequencing	Both parents of identified SUDI
SUDI cases	whole genome sequencing	Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI

Primary Outcome Measures

Name	Time	Method
Identification of genetic variants	up to 38 months	Presence of de novo genetic point mutations in coding and non-coding sequences, based on analysis of family trios using a whole-genome sequencing approach

Secondary Outcome Measures

Name	Time	Method
Identification of heterozygous variants or CNVs (copy number variants)	up to 38 months	Presence of composite heterozygous variants or CNVs (copy number variants) in the coding and non-coding sequences of the MSN propositus genome
Identification of new genotype - phenotype correlations	up to 38 months	Presence of new correlations between identified genetic variants and clinical and biological characteristics identified

Trial Locations

Locations (15)

CHU Toulouse; 🇫🇷 Toulouse, France

CHU Amiens; 🇫🇷 Amiens, France

CHU Angers; 🇫🇷 Angers, France

CHU Besançon; 🇫🇷 Besançon, France

APHP - Hôpital Jean Verdier; 🇫🇷 Bondy, France

CHU Brest; 🇫🇷 Brest, France

APHP - Hôpital Antoine Béclère; 🇫🇷 Clamart, France

CHU Grenoble; 🇫🇷 Grenoble, France

HCL; 🇫🇷 Lyon, France

AP-HM; 🇫🇷 Marseille, France

CHU Montpellier; 🇫🇷 Montpellier, France

CHRU Nancy; 🇫🇷 Nancy, France

CHU Rouen; 🇫🇷 Rouen, France

CHU Saint Etienne; 🇫🇷 Saint-Étienne, France

Nantes University Hospital; 🇫🇷 Nantes, Loire-Atlantique, France