Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome

NCT ID: NCT06244433

Last Updated: 2025-01-31

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

Get a concise snapshot of the trial, including recruitment status, study phase, enrollment targets, and key timeline milestones.

Recruitment Status

RECRUITING

Total Enrollment

650 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-08-27

Study Completion Date

2027-10-31

Brief Summary

Review the sponsor-provided synopsis that highlights what the study is about and why it is being conducted.

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

Dive into the extended narrative that explains the scientific background, objectives, and procedures in greater depth.

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.

Conditions

See the medical conditions and disease areas that this research is targeting or investigating.

Sudden Infant Death Sudden Unexplained Infant Death

Study Design

Understand how the trial is structured, including allocation methods, masking strategies, primary purpose, and other design elements.

Observational Model Type

FAMILY_BASED

Study Time Perspective

CROSS_SECTIONAL

Study Groups

Review each arm or cohort in the study, along with the interventions and objectives associated with them.

SUDI cases

Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI

whole genome sequencing

Intervention Type GENETIC

Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants

Parents

Both parents of identified SUDI

whole genome sequencing

Intervention Type GENETIC

Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants

Interventions

Learn about the drugs, procedures, or behavioral strategies being tested and how they are applied within this trial.

whole genome sequencing

Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants

Intervention Type GENETIC

Eligibility Criteria

Check the participation requirements, including inclusion and exclusion rules, age limits, and whether healthy volunteers are accepted.

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


* 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

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
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

Meet the organizations funding or collaborating on the study and learn about their roles.

AXA Assurances VIE Mutuelle

UNKNOWN

Sponsor Role collaborator

Institut du Thorax

UNKNOWN

Sponsor Role collaborator

Nantes University Hospital

OTHER

Sponsor Role lead

Responsible Party

Identify the individual or organization who holds primary responsibility for the study information submitted to regulators.

Responsibility Role SPONSOR

Principal Investigators

Learn about the lead researchers overseeing the trial and their institutional affiliations.

Fleur Lorton

Role: PRINCIPAL_INVESTIGATOR

Nantes University Hospital

Locations

Explore where the study is taking place and check the recruitment status at each participating site.

Nantes University Hospital

Nantes, Loire-Atlantique, France

Site Status RECRUITING

CHU Amiens

Amiens, , France

Site Status RECRUITING

CHU Angers

Angers, , France

Site Status RECRUITING

CHU Besançon

Besançon, , France

Site Status RECRUITING

APHP - Hôpital Jean Verdier

Bondy, , France

Site Status RECRUITING

CHU Brest

Brest, , France

Site Status RECRUITING

APHP - Hôpital Antoine Béclère

Clamart, , France

Site Status RECRUITING

CHU Grenoble

Grenoble, , France

Site Status RECRUITING

HCL

Lyon, , France

Site Status RECRUITING

AP-HM

Marseille, , France

Site Status NOT_YET_RECRUITING

CHU Montpellier

Montpellier, , France

Site Status RECRUITING

CHRU Nancy

Nancy, , France

Site Status RECRUITING

CHU Rouen

Rouen, , France

Site Status RECRUITING

CHU Saint Etienne

Saint-Etienne, , France

Site Status RECRUITING

CHU Toulouse

Toulouse, , France

Site Status RECRUITING

Countries

Review the countries where the study has at least one active or historical site.

France

Central Contacts

Reach out to these primary contacts for questions about participation or study logistics.

Fleur Lorton

Role: CONTACT

33 2 40 08 38 06

Alban-Elouen BARUTEAU

Role: CONTACT

Facility Contacts

Find local site contact details for specific facilities participating in the trial.

Fleur Lorton

Role: primary

+330240083806

Coralie Degorre

Role: primary

Estelle Darviot

Role: primary

Clémence Mougey

Role: primary

Loïc de Pontual

Role: primary

Mathilde Granjon

Role: primary

Gilles Jourdain

Role: primary

Anne-Pascale Michard-Lenoir

Role: primary

Béatrice Kugener

Role: primary

Laura Bourgoin

Role: primary

Odile Pidoux

Role: primary

Anne Borsa-Dorion

Role: primary

Solenn Raymond

Role: primary

Hugues Patural

Role: primary

Rémi Vincent

Role: primary

References

Explore related publications, articles, or registry entries linked to this study.

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. doi: 10.1136/bmjopen-2025-101811.

Reference Type DERIVED
PMID: 40738637 (View on PubMed)

Other Identifiers

Review additional registry numbers or institutional identifiers associated with this trial.

RC23_0260

Identifier Type: -

Identifier Source: org_study_id

More Related Trials

Additional clinical trials that may be relevant based on similarity analysis.

Developmental Outcomes
NCT02264808 COMPLETED