Sudden Infant DeathBIOMINRISKNCT06244433
Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
An observational study of Sudden Infant Death and Sudden Unexplained Infant Death, run by Nantes University Hospital at 18 sites in France.
Trial 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 Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Sudden Infant Death, Sudden Unexplained Infant Death
- What is being tested?
- whole genome sequencing
- How many people
- 650 participants
- Where
- 18 sitesFrance
- Study dates
- 27 Aug 2024to 27 Oct 2027
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
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
Trial locations and contacts
18 sites in 1 country. Contact the study team or a site near you to ask about taking part.
Alban-Elouen BARUTEAU contact
18 sites in 1 country
France18 sites, 18 recruiting
- Recruiting
CHU Amiens
Amiens
Coralie Degorre
- Recruiting
CHU Angers
Angers
Estelle Darviot
- Recruiting
CHU Besançon
Besançon
Clémence Mougey
- Recruiting
APHP - Hôpital Jean Verdier
Bondy
Loïc de Pontual
- Recruiting
CHU Brest
Brest
Mathilde Granjon
- Not yet recruiting
CHU de Caen-Normandie
Caen
Anne-Sophie TRENTESAUX, +33 2 31 06 31 06, trentesaux-as@chu-caen.fr
- Recruiting
APHP - Hôpital Antoine Béclère
Clamart
Gilles Jourdain
- Not yet recruiting
Centre Hospitalier Sud Francilien
Corbeil-Essonnes
Alexandre PUPIN, +33 1 61 69 61 69, alexandre.pupin@chsf.fr
- Recruiting
CHU Grenoble
Grenoble
Anne-Pascale Michard-Lenoir
- Recruiting
HCL
Lyon
Béatrice Kugener
- Not yet recruiting
AP-HM
Marseille
Laura Bourgoin
- Recruiting
CHU Montpellier
Montpellier
Odile Pidoux
- Recruiting
CHRU Nancy
Nancy
Anne Borsa-Dorion
- Recruiting
Nantes University Hospital
Nantes, Loire-Atlantique, 44093
Fleur Lorton, +330240083806, Fleur.LORTON@chu-nantes.fr
- Not yet recruiting
CHU de Poitiers
Poitiers
Marie LEBEAU, +33 549444444, marie.lebeau@chu-poitiers.fr
- Recruiting
CHU Rouen
Rouen
Solenn Raymond
- Recruiting
CHU Saint Etienne
Saint-Etienne
Hugues Patural
- Recruiting
CHU Toulouse
Toulouse
Rémi Vincent
About this study
Official title: 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
Read the 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.
- Being tested
- whole genome sequencing
- Medical subject headings
- Sudden Infant Death
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
whole genome sequencingGenetic
Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants
| Study group | Role | What they receive |
|---|---|---|
| SUDI cases | Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI Receives: Genetic: whole genome sequencing | |
| Parents | Both parents of identified SUDI Receives: Genetic: whole genome sequencing |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: up to 38 months
Secondary outcomes (2)
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
Measured: up to 38 months
Identification of new genotype - phenotype correlations
Presence of new correlations between identified genetic variants and clinical and biological characteristics identified
Measured: up to 38 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Feb 2024
- Study start27 Aug 2024
- Primary completion27 Aug 2026 (estimated)
- Study completion27 Oct 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Sudden Infant DeathStudies of the same condition, open and under way.
- More trials run by Nantes University HospitalThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Enrolment
- 650 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nantes University Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- AXA Assurances VIE Mutuelle, Institut du Thorax
- Responsible party
- Sponsor
- Investigators
- Fleur Lorton, Principal investigator, Nantes University Hospital
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06244433
- Sponsor's protocol ID
- RC23_0260
- Acronym
- BIOMINRISK
- Status last verified
- May 2026
- First submitted
- 25 Jan 2024
- Last updated
- 18 Jun 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
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. doi: 10.1136/bmjopen-2025-101811.
PubMed 40738637
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Risk Stratification of Sudden Unexpected Death in Infant Based on Biomarkers - Identification of Genetic Variants Associated With Unexpected Infant Death Syndrome
- ClinicalTrials.gov ID
- NCT06244433
- Acronym / sponsor ID
- BIOMINRISK / RC23_0260
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 650 participants (estimated)
- Lead sponsor
- Nantes University HospitalUniversity, hospital or other
- Collaborators
- AXA Assurances VIE Mutuelle, Institut du Thorax
- Study start
- 27 Aug 2024 (actual)
- Primary completion
- 27 Aug 2026 (estimated)
- Study completion
- 27 Oct 2027 (estimated)
- First posted
- 6 Feb 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Family based
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| SUDI cases | – | Genetic: whole genome sequencingSudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI |
| Parents | – | Genetic: whole genome sequencingBoth parents of identified SUDI |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| whole genome sequencingStudy of all coding and non-coding sequences in the genome to identify pathogenic allelic variants | Genetic | Parents, SUDI cases |
Primary outcome
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
2 secondary outcomes
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Jun 2026.
- Derived from this study: PubMed 40738637Ducloyer 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.
- Individual participant dataSharing planned: Yes
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Alban-Elouen BARUTEAU contact
Fleur Lorton principal investigator
Nantes University Hospital
18 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Sudden Infant Death and Sudden Unexplained Infant Death, run by Nantes University Hospital at 18 sites in France.
The full registered description is in the About this study section and the official record.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 18 Jun 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 18 sites in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Fleur Lorton (33 2 40 08 38 06, Fleur.LORTON@chu-nantes.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Identification of genetic variants (time frame: up to 38 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06244433, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Jun 2026.