[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-studies-list:{\"conditionNormalized\":\"newborn-screening\",\"overallStatus\":[\"RECRUITING\",\"AVAILABLE\",\"NOT_YET_RECRUITING\"],\"orderBy\":\"LastUpdateSubmitDate:desc\",\"size\":25,\"offset\":0}":3,"health-study-condition:newborn-screening":28},{"pageToken":4,"total":5,"offset":6,"count":5,"results":7},null,1,0,[8],{"id":9,"slug":10,"hasResults":11,"nctId":12,"briefTitle":13,"officialTitle":14,"acronym":15,"eligibilityCriteria":16,"healthyVolunteers":17,"sex":18,"minAge":4,"maxAge":19,"enrollmentInfo":20,"targetDuration":4,"studyType":23,"phases":24,"briefSummary":26,"conditions":27,"keywords":4,"overallStatus":29,"whyStopped":4,"lastUpdateSubmitDate":30,"lastUpdatePostDateStruct":31,"startDateStruct":34,"completionDateStruct":36,"leadSponsor":38,"locationsCount":41},"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":21,"type":22},20000,"ESTIMATED","INTERVENTIONAL",[25],"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.",[28],"Newborn Screening","RECRUITING","2026-04-28",{"date":32,"type":33},"2026-05-04","ACTUAL",{"date":35,"type":33},"2024-12-03",{"date":37,"type":22},"2026-12",{"name":39,"class":40},"University Hospital Freiburg","OTHER",8]