Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: whole genome sequencing.
- Who it may be relevant to
- Registry conditions: Sudden Infant Death, Sudden Unexplained Infant Death. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Risk Stratification of Sudden Unexpected Death in Infant Based on Biomarkers - Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
Overview
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.
Interventions
- Genetic whole genome sequencing
Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants
Primary outcome measures
- Identification of genetic variants [Time frame: up to 38 months]
Secondary outcome measures (2)
- Identification of heterozygous variants or CNVs (copy number variants) [Time frame: up to 38 months]
- Identification of new genotype - phenotype correlations [Time frame: up to 38 months]
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Family-based
Study locations
France · 18 centers
- Nantes University Hospital — Nantes
- CHU Amiens — Amiens
- CHU Angers — Angers
- CHU Besançon — Besançon
- APHP - Hôpital Jean Verdier — Bondy
- CHU Brest — Brest
- CHU de Caen-Normandie — Caen
- APHP - Hôpital Antoine Béclère — Clamart
- … and 10 more centers
Publications
- Ducloyer M, Baruteau AE, Franco P, Guyon A, Sapin V, Karakachoff M, Savall F, Schott JJ, de Pontual L, De Visme S, Ferrand L, Jarry B, Beudin D, Scherdel P, Lorton F. Identification of novel genetic, neurobiological and radio-anatomical biomarkers for risk stratification of sudden unexpected death in infancy and early childhood: the BIOMINRISK study protocol. BMJ Open. 2025 Jul 30;15(7):e101811. d PMID 40738637
Identifiers
NCT: NCT06244433 · RC23_0260