[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100558292":3},{"organization":4,"armGroups":7,"interventions":13,"overallOfficials":20,"centralContacts":25,"locations":30,"responsibleParty":156,"collaborators":159,"id":198,"slug":199,"hasResults":200,"nctId":201,"briefTitle":202,"officialTitle":203,"acronym":204,"eligibilityCriteria":205,"healthyVolunteers":206,"sex":207,"minAge":19,"maxAge":208,"enrollmentInfo":209,"targetDuration":19,"studyType":212,"phases":213,"briefSummary":215,"conditions":216,"keywords":19,"overallStatus":46,"whyStopped":19,"lastUpdateSubmitDate":218,"lastUpdatePostDateStruct":219,"startDateStruct":222,"completionDateStruct":224,"leadSponsor":226,"locationsCount":227},{"fullName":5,"class":6},"University Hospital Freiburg","OTHER",[8],{"label":9,"type":6,"description":10,"interventionNames":11},"newborn screening","All newborns participating in the study will receive a genetic newborn screening for predefined treatable diseases. Newborns participating in the TREAT-panel developing symptoms suggestive of a genetic disease during the first 2 years of life can receive whole genome sequencing.",[12],"Diagnostic Test: newborn genetic screening and whole genome sequencing",[14],{"type":15,"name":16,"description":17,"armGroupLabels":18,"otherNames":19},"DIAGNOSTIC_TEST","newborn genetic screening and whole genome sequencing","newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)",[9],null,[21],{"name":22,"affiliation":23,"role":24},"Alessandra Ferlini, Professor","Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna","PRINCIPAL_INVESTIGATOR",[26],{"name":22,"role":27,"phone":28,"phoneExt":19,"email":29},"CONTACT","+39 0532 974439","screen4care@unife.it",[31,44,64,82,99,116,124,140],{"facility":32,"status":33,"city":34,"state":19,"zip":35,"country":36,"countryCode":37,"cosmosGeoPoint":38,"geoPoint":43,"contacts":19},"Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants","COMPLETED","Dijon","21079","France","FR",{"type":39,"coordinates":40},"Point",[41,42],5.01391,47.31344,{"lat":42,"lon":41},{"facility":45,"status":46,"city":47,"state":19,"zip":48,"country":49,"countryCode":50,"cosmosGeoPoint":51,"geoPoint":55,"contacts":56},"Charité University Medicine Berlin","RECRUITING","Berlin","13353","Germany","DE",{"type":39,"coordinates":52},[53,54],13.41053,52.52437,{"lat":54,"lon":53},[57,61],{"name":58,"role":27,"phone":59,"phoneExt":19,"email":60},"Peter Kühnen, Prof. Dr.","0049 30 450 666 839","peter.kuehnen@charite.de",{"name":62,"role":27,"phone":19,"phoneExt":19,"email":63},"Janka K Hindricks, Dr.","janka-katharina.hindricks@charite.de",{"facility":65,"status":46,"city":66,"state":19,"zip":67,"country":49,"countryCode":50,"cosmosGeoPoint":68,"geoPoint":72,"contacts":73},"Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center","Freiburg im Breisgau","79106",{"type":39,"coordinates":69},[70,71],7.85222,47.9959,{"lat":71,"lon":70},[74,78,81],{"name":75,"role":27,"phone":76,"phoneExt":19,"email":77},"Janbernd Kirschner, Professor","+49 761 270-43650","kjk.screen4care@uniklinik-freiburg.de",{"name":79,"role":27,"phone":19,"phoneExt":19,"email":80},"Kathrin Freyler, Dr.","kathrin.freyler@uniklinik-freiburg.de",{"name":75,"role":24,"phone":19,"phoneExt":19,"email":19},{"facility":83,"status":46,"city":84,"state":19,"zip":85,"country":49,"countryCode":50,"cosmosGeoPoint":86,"geoPoint":90,"contacts":91},"University Medical Center Göttingen, Clinic for Neurology","Göttingen","37075",{"type":39,"coordinates":87},[88,89],9.93228,51.53443,{"lat":89,"lon":88},[92,96],{"name":93,"role":27,"phone":94,"phoneExt":19,"email":95},"Jana Zschüntzsch, Priv.-Doz. Dr.","00495513965167","j.zschuentzsch@med.uni-goettingen.de",{"name":97,"role":27,"phone":19,"phoneExt":19,"email":98},"Elisabeth Nyoungui","elisabeth.nyoungui@med.uni-goettingen.de",{"facility":100,"status":46,"city":101,"state":102,"zip":103,"country":104,"countryCode":105,"cosmosGeoPoint":106,"geoPoint":110,"contacts":111},"Ospedale Pediatrivo Bambino Gesu IRCCS","Rome","Lazio","00165","Italy","IT",{"type":39,"coordinates":107},[108,109],12.51133,41.89193,{"lat":109,"lon":108},[112],{"name":113,"role":27,"phone":114,"phoneExt":19,"email":115},"Enrico S Bertini","+39 0668592104","enricosilvio.bertini@opbg.net",{"facility":23,"status":33,"city":117,"state":19,"zip":118,"country":104,"countryCode":105,"cosmosGeoPoint":119,"geoPoint":123,"contacts":19},"Ferrara","44122",{"type":39,"coordinates":120},[121,122],11.62057,44.83804,{"lat":122,"lon":121},{"facility":125,"status":46,"city":126,"state":19,"zip":127,"country":104,"countryCode":105,"cosmosGeoPoint":128,"geoPoint":132,"contacts":133},"Azienda Ospedaliero Universitaria di Modena, Neonatology Unit","Modena","41100",{"type":39,"coordinates":129},[130,131],10.92539,44.64783,{"lat":131,"lon":130},[134,137],{"name":135,"role":27,"phone":19,"phoneExt":19,"email":136},"Prof. Alberto Berardi","alberto.berardi@unimore.it",{"name":138,"role":27,"phone":19,"phoneExt":19,"email":139},"Dr Licia Lugli","licia.lugli@gmail.com",{"facility":141,"status":46,"city":142,"state":19,"zip":143,"country":104,"countryCode":105,"cosmosGeoPoint":144,"geoPoint":148,"contacts":149},"San Pietro Fatebenefratelli Hospital","Roma","00189",{"type":39,"coordinates":145},[146,147],11.10642,44.99364,{"lat":147,"lon":146},[150,153],{"name":151,"role":27,"phone":19,"phoneExt":19,"email":152},"Prof. Marco Bonito, UOC Obstetrics and Gynecology","bonito.marco@fbfrm.it",{"name":154,"role":27,"phone":19,"phoneExt":19,"email":155},"Dott.ssa Maria Eleonora Scapillati, UOC Pediatrics and Neonatology","scapillati.eleonora@fbfrm.it",{"type":24,"investigatorFullName":157,"investigatorTitle":158,"investigatorAffiliation":5,"oldNameTitle":19,"oldOrganization":19},"Jan Kirschner","Prof. Dr.",[160,162,164,166,168,170,173,175,177,179,181,183,186,188,190,192,194,196],{"name":161,"class":6},"Innovative Medicines Initiative",{"name":163,"class":6},"Università degli Studi di Ferrara",{"name":165,"class":6},"Ospedale Pediatrico Bambin Gesù",{"name":167,"class":6},"University of Siena",{"name":169,"class":6},"Centre Hospitalier Universitaire Dijon",{"name":171,"class":172},"Real Genix","UNKNOWN",{"name":174,"class":6},"University Hospital Goettingen",{"name":176,"class":172},"Centro Nacional de Análisis Genómico",{"name":178,"class":172},"Genoox",{"name":180,"class":172},"Municipal Hospital Karlsruhe",{"name":182,"class":172},"Schwarzwald-Baar Hospital",{"name":184,"class":185},"Illumina, Inc.","INDUSTRY",{"name":187,"class":6},"Charite University, Berlin, Germany",{"name":189,"class":6},"Brno University Hospital",{"name":191,"class":6},"General Hospital Of Thessaloniki Ippokratio",{"name":193,"class":6},"San Camillo Hospital, Rome",{"name":195,"class":6},"University of Rzeszow",{"name":197,"class":6},"Hospital San Pietro Fatebenefratelli","100558292","genetic-newborn-screening-for-rare-diseases-within-the-screen4care-project-100558292",false,"NCT06549218","Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project","Shortening the Path to Rare Disease Diagnosis by Using Newborn Genetic Screening and Digital Technologies (SCREEN4CARE): Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project","SCREEN4CARE","Inclusion Criteria:\n\n* TREAT-panel:\n\n  * newborns\n  * Infants born in one of the participating hospitals and birth centres\n  * Informed consent signed by both parents\u002Flegal guardian to participate in genetic newborn screening (TREAT-panel)\n* Whole genome sequencing:\n\n  * Participation in the TREAT-panel study\n  * Symptoms suggestive of a genetic disease within the first 2 years of life\n  * Informed consent signed by both parents\u002Flegal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing\n\nExclusion Criteria:\n\n* Missing informed consent of parents\u002Flegal guardian",true,"ALL","2 Years",{"count":210,"type":211},20000,"ESTIMATED","INTERVENTIONAL",[214],"NA","The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a genetic disease.\n\nTo evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.",[217],"Newborn Screening","2026-04-28",{"date":220,"type":221},"2026-05-04","ACTUAL",{"date":223,"type":221},"2024-12-03",{"date":225,"type":211},"2026-12",{"name":5,"class":6},8]