Sudden Infant Death, Sudden Unexplained Infant Death
Conditions
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.
Interventions
GENETICwhole genome sequencing
Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants
Sponsors
Nantes University Hospital
AXA Assurances VIE Mutuelle
Institut du Thorax
Study design
Observational model
FAMILY_BASED
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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 |
Countries
France
Contacts
CONTACTFleur Lorton
CONTACTAlban-Elouen BARUTEAU
PRINCIPAL_INVESTIGATORFleur Lorton
Nantes University Hospital
Outcome results
None listed