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
Introduction The BIOMINRISK project is a national French study aimed at identifying novel biomarkers associated with sudden unexpected death in infancy (SUDI) through a multidisciplinary approach encompassing three key components of intrinsic vulnerability to SUDI: genetic, neurobiological and radio...
Saved in:
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
BMJ Publishing Group
2025-07-01
|
| Series: | BMJ Open |
| Online Access: | https://bmjopen.bmj.com/content/15/7/e101811.full |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849411829016559616 |
|---|---|
| author | Jean-Jacques Schott Loïc De Pontual Vincent Sapin Mathilde Ducloyer Matilde Karakachoff Sophie de Visme Fleur Lorton Aurore Guyon Patricia Franco Alban-Elouen Baruteau Pauline Scherdel Frédéric Savall Léa Ferrand Bérengère Jarry Didier Beudin |
| author_facet | Jean-Jacques Schott Loïc De Pontual Vincent Sapin Mathilde Ducloyer Matilde Karakachoff Sophie de Visme Fleur Lorton Aurore Guyon Patricia Franco Alban-Elouen Baruteau Pauline Scherdel Frédéric Savall Léa Ferrand Bérengère Jarry Didier Beudin |
| author_sort | Jean-Jacques Schott |
| collection | DOAJ |
| description | Introduction The BIOMINRISK project is a national French study aimed at identifying novel biomarkers associated with sudden unexpected death in infancy (SUDI) through a multidisciplinary approach encompassing three key components of intrinsic vulnerability to SUDI: genetic, neurobiological and radio-anatomical. A better understanding of the pathophysiological mechanisms underlying SUDI may enhance the personalisation of prevention strategies and contribute to reducing its incidence.Methods and analysis We will analyse data from 250 children under the age of 2 included in the national SUDI registry (the OMIN registry) since 2020 for which biological samples and medical imaging data will have been collected from 15 participating French hospitals. Our investigations will focus on three axes: (1) genetic: we will conduct whole genome sequencing family trio analyses to identify novel variants and genes associated with sudden infant death syndrome (SIDS) by examining SIDS cases along with their two parents; (2) neurobiological: a case-control study will be performed to investigate the roles of various neuromodulators—including serum serotonin, blood butyrylcholinesterase and cerebrospinal fluid orexin—in the arousal regulation in children who have died from SUDI. We will recruit 250 living age-matched and sex-matched controls who will undergo blood tests and lumbar punctures as part of their routine care and (3) radio-anatomical: a case-control study will explore the potential anatomical predisposition to SUDI by assessing upper airway narrowness. We will compare the osseous structures of the upper airways (nasal fossae, hard palate) using geometric morphometrics on CT images. Recruitment of 250 living age-matched and sex-matched controls who have undergone brain CT scans, including facial bones, will be conducted.Ethics and dissemination The study has received ethics approval for all three axes. Results will be published in international peer-reviewed journals and presented at national and international conferences.Trial registration number NCT06244433. |
| format | Article |
| id | doaj-art-2d8dab87299d42f5927ef739d1bfd72b |
| institution | Kabale University |
| issn | 2044-6055 |
| language | English |
| publishDate | 2025-07-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | BMJ Open |
| spelling | doaj-art-2d8dab87299d42f5927ef739d1bfd72b2025-08-20T03:34:39ZengBMJ Publishing GroupBMJ Open2044-60552025-07-0115710.1136/bmjopen-2025-101811Identification of novel genetic, neurobiological and radio-anatomical biomarkers for risk stratification of sudden unexpected death in infancy and early childhood: the BIOMINRISK study protocolJean-Jacques Schott0Loïc De Pontual1Vincent Sapin2Mathilde Ducloyer3Matilde Karakachoff4Sophie de Visme5Fleur Lorton6Aurore Guyon7Patricia Franco8Alban-Elouen Baruteau9Pauline Scherdel10Frédéric Savall11Léa Ferrand12Bérengère Jarry13Didier Beudin14CHU Nantes, CNRS, INSERM, l’institut du thorax, Nantes University, Nantes, FranceDepartment of Pediatrics, Assistance Publique - Hôpitaux de Paris, Paris, FranceBiochemistry and Molecular Genetics Department, University Hospital of Clermont-Ferrand, Clermont-Ferrand, FranceCHU Nantes, Forensic Department, Nantes University, Nantes, FranceClinique des données, CIC 1413, INSERM, Pôle Hospitalo-Universitaire 11: Santé Publique, Centre Hospitalier Universitaire Nantes, Nantes University, Nantes, FranceCHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, FranceCHU Nantes, INSERM, Paediatric Emergency Department, CIC 1413, Nantes University, Nantes, FrancePediatric Sleep Unit, Hôpital Femme-Mère Enfant, Hospices Civils de Lyon, INSERM U1028/CNRS UMR 5292, Lyon Neuroscience Research Center, Lyon, FrancePediatric Sleep Unit, Hôpital Femme-Mère Enfant, Hospices Civils de Lyon, INSERM U1028/CNRS UMR 5292, Lyon Neuroscience Research Center, Lyon, FranceCHU Nantes, Department of Pediatric Cardiology and Pediatric Cardiac Surgery, FHU PreciCare, CIC1413, Nantes Université, Nantes, FranceCHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, FranceCentre for Anthropobiology and Genomics of Toulouse, UMR 5288 (CNRS/UT3), Toulouse III University-Paul Sabatier, Toulouse, FranceCHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, FranceCHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, FranceCHU Nantes, Research and Innovation Department, Promotion Department, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, FranceIntroduction The BIOMINRISK project is a national French study aimed at identifying novel biomarkers associated with sudden unexpected death in infancy (SUDI) through a multidisciplinary approach encompassing three key components of intrinsic vulnerability to SUDI: genetic, neurobiological and radio-anatomical. A better understanding of the pathophysiological mechanisms underlying SUDI may enhance the personalisation of prevention strategies and contribute to reducing its incidence.Methods and analysis We will analyse data from 250 children under the age of 2 included in the national SUDI registry (the OMIN registry) since 2020 for which biological samples and medical imaging data will have been collected from 15 participating French hospitals. Our investigations will focus on three axes: (1) genetic: we will conduct whole genome sequencing family trio analyses to identify novel variants and genes associated with sudden infant death syndrome (SIDS) by examining SIDS cases along with their two parents; (2) neurobiological: a case-control study will be performed to investigate the roles of various neuromodulators—including serum serotonin, blood butyrylcholinesterase and cerebrospinal fluid orexin—in the arousal regulation in children who have died from SUDI. We will recruit 250 living age-matched and sex-matched controls who will undergo blood tests and lumbar punctures as part of their routine care and (3) radio-anatomical: a case-control study will explore the potential anatomical predisposition to SUDI by assessing upper airway narrowness. We will compare the osseous structures of the upper airways (nasal fossae, hard palate) using geometric morphometrics on CT images. Recruitment of 250 living age-matched and sex-matched controls who have undergone brain CT scans, including facial bones, will be conducted.Ethics and dissemination The study has received ethics approval for all three axes. Results will be published in international peer-reviewed journals and presented at national and international conferences.Trial registration number NCT06244433.https://bmjopen.bmj.com/content/15/7/e101811.full |
| spellingShingle | Jean-Jacques Schott Loïc De Pontual Vincent Sapin Mathilde Ducloyer Matilde Karakachoff Sophie de Visme Fleur Lorton Aurore Guyon Patricia Franco Alban-Elouen Baruteau Pauline Scherdel Frédéric Savall Léa Ferrand Bérengère Jarry Didier Beudin 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 |
| title | 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 |
| title_full | 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 |
| title_fullStr | 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 |
| title_full_unstemmed | 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 |
| title_short | 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 |
| title_sort | 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 |
| url | https://bmjopen.bmj.com/content/15/7/e101811.full |
| work_keys_str_mv | AT jeanjacquesschott identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT loicdepontual identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT vincentsapin identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT mathildeducloyer identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT matildekarakachoff identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT sophiedevisme identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT fleurlorton identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT auroreguyon identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT patriciafranco identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT albanelouenbaruteau identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT paulinescherdel identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT fredericsavall identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT leaferrand identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT berengerejarry identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol AT didierbeudin identificationofnovelgeneticneurobiologicalandradioanatomicalbiomarkersforriskstratificationofsuddenunexpecteddeathininfancyandearlychildhoodthebiominriskstudyprotocol |