Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorNantes University Hospital
About this trial
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
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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.
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
Disqualifiers
Presence of a known metabolic, genetic or syndromic pathology at the time of death
Parent under guardianship
Presence of a known metabolic, genetic or syndromic pathology
Trial 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.
Trial design
Design model
Family-based
Time perspective
Cross-sectional
Treatments tested in this trial
whole genome sequencing
GeneticStudy of all coding and non-coding sequences in the genome to identify pathogenic allelic variants
Treatment groups
650 Participants
are divided into 2 treatment groupsGroup A: SUDI cases1 intervention
Group B: Parents1 intervention
Trial outcomes
Primary outcomes
1
Identification of genetic variants
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
Time frame
up to 38 monthsSecondary outcomes
1
Identification of heterozygous variants or CNVs (copy number variants)
Presence of composite heterozygous variants or CNVs (copy number variants) in the coding and non-coding sequences of the MSN propositus genome
Time frame
up to 38 months2
Identification of new genotype - phenotype correlations
Presence of new correlations between identified genetic variants and clinical and biological characteristics identified
Time frame
up to 38 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Nantes University Hospital
Lead sponsor
AXA Assurances VIE Mutuelle
Collaborator
Institut du Thorax
Collaborator
Source ClinicalTrials.gov