{
  "abstract": "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.",
  "authors": [
    {
      "affiliations": [
        "CHU Nantes, Forensic Department, Nantes University, Nantes, France",
        "Centre for Anthropobiology and Genomics of Toulouse, UMR 5288 (CNRS/UT3), Toulouse III University-Paul Sabatier, Toulouse, France"
      ],
      "name": "Mathilde Ducloyer"
    },
    {
      "affiliations": [
        "CHU Nantes, Department of Pediatric Cardiology and Pediatric Cardiac Surgery, FHU PreciCare, CIC1413, Nantes Université, Nantes, France",
        "CNRS, INSERM, l’institut du thorax, Nantes University, Nantes, France"
      ],
      "name": "Alban-Elouen Baruteau"
    },
    {
      "affiliations": [
        "Pediatric Sleep Unit, Hôpital Femme-Mère Enfant, Hospices Civils de Lyon, INSERM U1028/CNRS UMR 5292, Lyon Neuroscience Research Center, Lyon, France"
      ],
      "name": "Patricia Franco"
    },
    {
      "affiliations": [
        "Pediatric Sleep Unit, Hôpital Femme-Mère Enfant, Hospices Civils de Lyon, INSERM U1028/CNRS UMR 5292, Lyon Neuroscience Research Center, Lyon, France"
      ],
      "name": "Aurore Guyon"
    },
    {
      "affiliations": [
        "Biochemistry and Molecular Genetics Department, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France"
      ],
      "name": "Vincent Sapin"
    },
    {
      "affiliations": [
        "Clinique des données, CIC 1413, INSERM, Pôle Hospitalo-Universitaire 11: Santé Publique, Centre Hospitalier Universitaire Nantes, Nantes University, Nantes, France"
      ],
      "name": "Matilde Karakachoff"
    },
    {
      "affiliations": [
        "Centre for Anthropobiology and Genomics of Toulouse, UMR 5288 (CNRS/UT3), Toulouse III University-Paul Sabatier, Toulouse, France",
        "CHU Toulouse, Forensic Department, Rangueil Hospital, Toulouse III University-Paul Sabatier, Toulouse, France"
      ],
      "name": "Frédéric Savall"
    },
    {
      "affiliations": [
        "CHU Nantes, CNRS, INSERM, l’institut du thorax, Nantes University, Nantes, France"
      ],
      "name": "Jean-Jacques Schott"
    },
    {
      "affiliations": [
        "Department of Pediatrics, Assistance Publique - Hôpitaux de Paris, Paris, France"
      ],
      "name": "Loïc de Pontual"
    },
    {
      "affiliations": [
        "CHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Sophie De Visme"
    },
    {
      "affiliations": [
        "CHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Léa Ferrand"
    },
    {
      "affiliations": [
        "CHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Bérengère Jarry"
    },
    {
      "affiliations": [
        "CHU Nantes, Research and Innovation Department, Promotion Department, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Didier Beudin"
    },
    {
      "affiliations": [
        "CHU Nantes, INSERM, UIC Femme-Enfant-Adolescent, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Pauline Scherdel"
    },
    {
      "affiliations": [
        "CHU Nantes, INSERM, Paediatric Emergency Department, CIC 1413, Nantes University, Nantes, France"
      ],
      "name": "Fleur Lorton"
    }
  ],
  "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",
  "uid": "f1d5276f-463a-5a9d-ba04-d84ca875b1ea"
}