[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100558292":3},{"organization":4,"outcomesModule":7,"designInfo":43,"detailedDescription":42,"studyPopulation":42,"armGroups":49,"interventions":55,"overallOfficials":61,"centralContacts":66,"locations":71,"responsibleParty":197,"collaborators":200,"id":239,"slug":42,"hasResults":240,"nctId":241,"briefTitle":242,"officialTitle":243,"acronym":244,"eligibilityCriteria":245,"healthyVolunteers":246,"sex":247,"minAge":42,"maxAge":248,"enrollmentInfo":249,"targetDuration":42,"studyType":252,"phases":253,"briefSummary":254,"conditions":255,"keywords":42,"overallStatus":87,"whyStopped":42,"lastUpdateSubmitDate":257,"lastUpdatePostDateStruct":258,"startDateStruct":261,"completionDateStruct":263,"leadSponsor":265,"locationsCount":266},{"fullName":5,"class":6},"University Hospital Freiburg","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":23,"otherOutcomes":42},[9,13,15,19,21],{"measure":10,"description":11,"timeFrame":12},"TREAT-panel","• Percentage of eligible couples who will accept to participate to the genetic newborn screening","1 year",{"measure":10,"description":14,"timeFrame":12},"• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified",{"measure":16,"description":17,"timeFrame":18},"Whole Genome Sequencing","• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing","2 years",{"measure":16,"description":20,"timeFrame":18},"• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients",{"measure":16,"description":22,"timeFrame":18},"• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing",[24,26,28,30,32,34,36,38,40],{"measure":10,"description":25,"timeFrame":12},"• Clinical follow-up of infants with positive findings in gNBS",{"measure":10,"description":27,"timeFrame":12},"• Impact of genetic NBS on parents as assessed by standardized questionnaires",{"measure":10,"description":29,"timeFrame":12},"• Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.",{"measure":10,"description":31,"timeFrame":12},"• Percentage of study participants who develop symptoms of a genetic disease after negative newborn screening and are diagnosed by whole genome sequencing (aggregated data analysis, not reported to participants)",{"measure":10,"description":33,"timeFrame":12},"• Impact of positive findings in gNBS on the health care and outcome of study participants",{"measure":16,"description":35,"timeFrame":18},"• Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients",{"measure":16,"description":37,"timeFrame":18},"• Number of VUS identified in known disease genes",{"measure":16,"description":39,"timeFrame":18},"• Number of VUS identified in novel disease genes\u002Fphenotypes",{"measure":16,"description":41,"timeFrame":18},"• Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening",null,{"allocation":44,"interventionModel":45,"interventionModelDescription":42,"primaryPurpose":46,"observationalModel":42,"timePerspective":42,"maskingInfo":47},"NA","SINGLE_GROUP","SCREENING",{"masking":48,"maskingDescription":42,"whoMasked":42},"NONE",[50],{"label":51,"type":6,"description":52,"interventionNames":53},"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.",[54],"Diagnostic Test: newborn genetic screening and whole genome sequencing",[56],{"type":57,"name":58,"description":59,"armGroupLabels":60,"otherNames":42},"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)",[51],[62],{"name":63,"affiliation":64,"role":65},"Alessandra Ferlini, Professor","Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna","PRINCIPAL_INVESTIGATOR",[67],{"name":63,"role":68,"phone":69,"phoneExt":42,"email":70},"CONTACT","+39 0532 974439","screen4care@unife.it",[72,85,105,123,140,157,165,181],{"facility":73,"status":74,"city":75,"state":42,"zip":76,"country":77,"countryCode":78,"cosmosGeoPoint":79,"geoPoint":84,"contacts":42},"Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants","COMPLETED","Dijon","21079","France","FR",{"type":80,"coordinates":81},"Point",[82,83],5.01391,47.31344,{"lat":83,"lon":82},{"facility":86,"status":87,"city":88,"state":42,"zip":89,"country":90,"countryCode":91,"cosmosGeoPoint":92,"geoPoint":96,"contacts":97},"Charité University Medicine Berlin","RECRUITING","Berlin","13353","Germany","DE",{"type":80,"coordinates":93},[94,95],13.41053,52.52437,{"lat":95,"lon":94},[98,102],{"name":99,"role":68,"phone":100,"phoneExt":42,"email":101},"Peter Kühnen, Prof. Dr.","0049 30 450 666 839","peter.kuehnen@charite.de",{"name":103,"role":68,"phone":42,"phoneExt":42,"email":104},"Janka K Hindricks, Dr.","janka-katharina.hindricks@charite.de",{"facility":106,"status":87,"city":107,"state":42,"zip":108,"country":90,"countryCode":91,"cosmosGeoPoint":109,"geoPoint":113,"contacts":114},"Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center","Freiburg im Breisgau","79106",{"type":80,"coordinates":110},[111,112],7.85222,47.9959,{"lat":112,"lon":111},[115,119,122],{"name":116,"role":68,"phone":117,"phoneExt":42,"email":118},"Janbernd Kirschner, Professor","+49 761 270-43650","kjk.screen4care@uniklinik-freiburg.de",{"name":120,"role":68,"phone":42,"phoneExt":42,"email":121},"Kathrin Freyler, Dr.","kathrin.freyler@uniklinik-freiburg.de",{"name":116,"role":65,"phone":42,"phoneExt":42,"email":42},{"facility":124,"status":87,"city":125,"state":42,"zip":126,"country":90,"countryCode":91,"cosmosGeoPoint":127,"geoPoint":131,"contacts":132},"University Medical Center Göttingen, Clinic for Neurology","Göttingen","37075",{"type":80,"coordinates":128},[129,130],9.93228,51.53443,{"lat":130,"lon":129},[133,137],{"name":134,"role":68,"phone":135,"phoneExt":42,"email":136},"Jana Zschüntzsch, Priv.-Doz. Dr.","00495513965167","j.zschuentzsch@med.uni-goettingen.de",{"name":138,"role":68,"phone":42,"phoneExt":42,"email":139},"Elisabeth Nyoungui","elisabeth.nyoungui@med.uni-goettingen.de",{"facility":141,"status":87,"city":142,"state":143,"zip":144,"country":145,"countryCode":146,"cosmosGeoPoint":147,"geoPoint":151,"contacts":152},"Ospedale Pediatrivo Bambino Gesu IRCCS","Rome","Lazio","00165","Italy","IT",{"type":80,"coordinates":148},[149,150],12.51133,41.89193,{"lat":150,"lon":149},[153],{"name":154,"role":68,"phone":155,"phoneExt":42,"email":156},"Enrico S Bertini","+39 0668592104","enricosilvio.bertini@opbg.net",{"facility":64,"status":74,"city":158,"state":42,"zip":159,"country":145,"countryCode":146,"cosmosGeoPoint":160,"geoPoint":164,"contacts":42},"Ferrara","44122",{"type":80,"coordinates":161},[162,163],11.62057,44.83804,{"lat":163,"lon":162},{"facility":166,"status":87,"city":167,"state":42,"zip":168,"country":145,"countryCode":146,"cosmosGeoPoint":169,"geoPoint":173,"contacts":174},"Azienda Ospedaliero Universitaria di Modena, Neonatology Unit","Modena","41100",{"type":80,"coordinates":170},[171,172],10.92539,44.64783,{"lat":172,"lon":171},[175,178],{"name":176,"role":68,"phone":42,"phoneExt":42,"email":177},"Prof. Alberto Berardi","alberto.berardi@unimore.it",{"name":179,"role":68,"phone":42,"phoneExt":42,"email":180},"Dr Licia Lugli","licia.lugli@gmail.com",{"facility":182,"status":87,"city":183,"state":42,"zip":184,"country":145,"countryCode":146,"cosmosGeoPoint":185,"geoPoint":189,"contacts":190},"San Pietro Fatebenefratelli Hospital","Roma","00189",{"type":80,"coordinates":186},[187,188],11.10642,44.99364,{"lat":188,"lon":187},[191,194],{"name":192,"role":68,"phone":42,"phoneExt":42,"email":193},"Prof. Marco Bonito, UOC Obstetrics and Gynecology","bonito.marco@fbfrm.it",{"name":195,"role":68,"phone":42,"phoneExt":42,"email":196},"Dott.ssa Maria Eleonora Scapillati, UOC Pediatrics and Neonatology","scapillati.eleonora@fbfrm.it",{"type":65,"investigatorFullName":198,"investigatorTitle":199,"investigatorAffiliation":5,"oldNameTitle":42,"oldOrganization":42},"Jan Kirschner","Prof. Dr.",[201,203,205,207,209,211,214,216,218,220,222,224,227,229,231,233,235,237],{"name":202,"class":6},"Innovative Medicines Initiative",{"name":204,"class":6},"Università degli Studi di Ferrara",{"name":206,"class":6},"Ospedale Pediatrico Bambin Gesù",{"name":208,"class":6},"University of Siena",{"name":210,"class":6},"Centre Hospitalier Universitaire Dijon",{"name":212,"class":213},"Real Genix","UNKNOWN",{"name":215,"class":6},"University Hospital Goettingen",{"name":217,"class":213},"Centro Nacional de Análisis Genómico",{"name":219,"class":213},"Genoox",{"name":221,"class":213},"Municipal Hospital Karlsruhe",{"name":223,"class":213},"Schwarzwald-Baar Hospital",{"name":225,"class":226},"Illumina, Inc.","INDUSTRY",{"name":228,"class":6},"Charite University, Berlin, Germany",{"name":230,"class":6},"Brno University Hospital",{"name":232,"class":6},"General Hospital Of Thessaloniki Ippokratio",{"name":234,"class":6},"San Camillo Hospital, Rome",{"name":236,"class":6},"University of Rzeszow",{"name":238,"class":6},"Hospital San Pietro Fatebenefratelli","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":250,"type":251},20000,"ESTIMATED","INTERVENTIONAL",[44],"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.",[256],"Newborn Screening","2026-04-28",{"date":259,"type":260},"2026-05-04","ACTUAL",{"date":262,"type":260},"2024-12-03",{"date":264,"type":251},"2026-12",{"name":5,"class":6},8]