Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome (BIOMINRISK)

May 5, 2026 updated by: Nantes University Hospital

Risk Stratification of Sudden Unexpected Death in Infant Based on Biomarkers - Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome

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

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

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 Type

Observational

Enrollment (Estimated)

650

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Amiens, France
        • Recruiting
        • CHU Amiens
        • Contact:
          • Coralie Degorre
      • Angers, France
        • Recruiting
        • CHU Angers
        • Contact:
          • Estelle Darviot
      • Besançon, France
        • Recruiting
        • CHU Besançon
        • Contact:
          • Clémence Mougey
      • Bondy, France
        • Recruiting
        • APHP - Hôpital Jean Verdier
        • Contact:
          • Loïc de Pontual
      • Brest, France
        • Recruiting
        • CHU Brest
        • Contact:
          • Mathilde Granjon
      • Clamart, France
        • Recruiting
        • APHP - Hôpital Antoine Béclère
        • Contact:
          • Gilles Jourdain
      • Grenoble, France
        • Recruiting
        • CHU Grenoble
        • Contact:
          • Anne-Pascale Michard-Lenoir
      • Lyon, France
        • Recruiting
        • HCL
        • Contact:
          • Béatrice Kugener
      • Marseille, France
        • Not yet recruiting
        • AP-HM
        • Contact:
          • Laura Bourgoin
      • Montpellier, France
        • Recruiting
        • CHU Montpellier
        • Contact:
          • Odile Pidoux
      • Nancy, France
        • Recruiting
        • CHRU Nancy
        • Contact:
          • Anne Borsa-Dorion
      • Rouen, France
        • Recruiting
        • CHU Rouen
        • Contact:
          • Solenn Raymond
      • Saint-Etienne, France
        • Recruiting
        • Chu Saint Etienne
        • Contact:
          • Hugues Patural
      • Toulouse, France
        • Recruiting
        • CHU Toulouse
        • Contact:
          • Rémi Vincent
    • Loire-Atlantique
      • Nantes, Loire-Atlantique, France, 44093

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

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.

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
Intervention / Treatment
SUDI cases
Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI
Genetic: whole genome sequencing
Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants
Parents
Both parents of identified SUDI
Genetic: whole genome sequencing
Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of genetic variants
Time Frame: 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
up to 38 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Identification of heterozygous variants or CNVs (copy number variants)
Time Frame: 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
up to 38 months
Identification of new genotype - phenotype correlations
Time Frame: up to 38 months
Presence of new correlations between identified genetic variants and clinical and biological characteristics identified
up to 38 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Nantes University Hospital

Collaborators

AXA Assurances VIE Mutuelle
Institut du Thorax

Investigators

  • Principal Investigator: Fleur LORTON, Nantes University Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 27, 2024

Primary Completion (Estimated)

August 27, 2026

Study Completion (Estimated)

October 27, 2027

Study Registration Dates

First Submitted

January 25, 2024

First Submitted That Met QC Criteria

February 5, 2024

First Posted (Actual)

February 6, 2024

Study Record Updates

Last Update Posted (Actual)

May 8, 2026

Last Update Submitted That Met QC Criteria

May 5, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

  • RC23_0260

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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