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| Name | Class |
|---|---|
| AXA Assurances VIE Mutuelle | UNKNOWN |
| Institut du Thorax | UNKNOWN |
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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
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| SUDI cases | Sudden unexpected death in infant (SUDI) cases registered within the French National Registry of SUDI |
| |
| Parents | Both parents of identified SUDI |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| whole genome sequencing | Genetic | Study of all coding and non-coding sequences in the genome to identify pathogenic allelic variants |
|
| Measure | Description | Time Frame |
|---|---|---|
| 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 | up to 38 months |
| Measure | Description | Time Frame |
|---|---|---|
| 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 | up to 38 months |
| Identification of new genotype - phenotype correlations |
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Child Inclusion Criteria
Parents Inclusion Criteria
Child Exclusion Criteria:
Parents Exclusion Crtiteria:
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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.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fleur Lorton | Contact | 33 2 40 08 38 06 | Fleur.LORTON@chu-nantes.fr | |
| Alban-Elouen BARUTEAU | Contact | albanelouen.baruteau@chu-nantes.fr |
| Name | Affiliation | Role |
|---|---|---|
| Fleur Lorton | Nantes University Hospital | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Nantes University Hospital | Recruiting | Nantes | Loire-Atlantique | 44093 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 40738637 | Derived | 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. |
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blood and DNA samples
Presence of new correlations between identified genetic variants and clinical and biological characteristics identified |
| up to 38 months |
| CHU Amiens | Recruiting | Amiens | France |
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| CHU Angers | Recruiting | Angers | France |
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| CHU Besançon | Recruiting | Besançon | France |
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| APHP - Hôpital Jean Verdier | Recruiting | Bondy | France |
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| CHU Brest | Recruiting | Brest | France |
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| CHU de Caen-Normandie | Not yet recruiting | Caen | France |
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| APHP - Hôpital Antoine Béclère | Recruiting | Clamart | France |
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| Centre Hospitalier Sud Francilien | Not yet recruiting | Corbeil-Essonnes | France |
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| CHU Grenoble | Recruiting | Grenoble | France |
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| HCL | Recruiting | Lyon | France |
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| AP-HM | Not yet recruiting | Marseille | France |
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| CHU Montpellier | Recruiting | Montpellier | France |
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| CHRU Nancy | Recruiting | Nancy | France |
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| CHU de Poitiers | Not yet recruiting | Poitiers | France |
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| CHU Rouen | Recruiting | Rouen | France |
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| CHU Saint Etienne | Recruiting | Saint-Etienne | France |
|
| CHU Toulouse | Recruiting | Toulouse | France |
|
| ID | Term |
|---|---|
| D013398 | Sudden Infant Death |
| ID | Term |
|---|---|
| D003645 | Death, Sudden |
| D003643 | Death |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D066088 | Infant Death |
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| ID | Term |
|---|---|
| D000073336 | Whole Genome Sequencing |
| ID | Term |
|---|---|
| D017422 | Sequence Analysis, DNA |
| D017421 | Sequence Analysis |
| D005821 | Genetic Techniques |
| D008919 | Investigative Techniques |
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