Ignite Creation Date:
2025-12-25 @ 4:36 AM
Ignite Modification Date:
2025-12-26 @ 3:38 AM
Study NCT ID:
NCT06549218
Status:
RECRUITING
Last Update Posted:
2025-07-29
First Post:
2024-07-29
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'phases': ['NA'], 'studyType': 'INTERVENTIONAL', 'designInfo': {'allocation': 'NA', 'maskingInfo': {'masking': 'NONE'}, 'primaryPurpose': 'SCREENING', 'interventionModel': 'SINGLE_GROUP'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 20000}}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2024-12-03', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-07', 'completionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-07-24', 'studyFirstSubmitDate': '2024-07-29', 'studyFirstSubmitQcDate': '2024-08-07', 'lastUpdatePostDateStruct': {'date': '2025-07-29', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2024-08-12', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2025-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Percentage of eligible couples who will accept to participate to the genetic newborn screening'}, {'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing'}], 'secondaryOutcomes': [{'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Clinical follow-up of infants with positive findings in gNBS'}, {'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Impact of genetic NBS on parents as assessed by standardized questionnaires'}, {'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.'}, {'measure': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• 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': 'TREAT-panel', 'timeFrame': '1 year', 'description': '• Impact of positive findings in gNBS on the health care and outcome of study participants'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Number of VUS identified in known disease genes'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Number of VUS identified in novel disease genes/phenotypes'}, {'measure': 'Whole Genome Sequencing', 'timeFrame': '2 years', 'description': '• Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening'}]}, 'oversightModule': {'isUsExport': False, 'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Newborn Screening']}, 'descriptionModule': {'briefSummary': '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.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD'], 'maximumAge': '2 Years', 'healthyVolunteers': True, 'eligibilityCriteria': '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/legal 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/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing\n\nExclusion Criteria:\n\n* Missing informed consent of parents/legal guardian'}, 'identificationModule': {'nctId': 'NCT06549218', 'acronym': 'SCREEN4CARE', 'briefTitle': 'Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project', 'nctIdAliases': ['NCT06528548'], 'organization': {'class': 'OTHER', 'fullName': 'University Hospital Freiburg'}, 'officialTitle': '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', 'orgStudyIdInfo': {'id': '101034427'}}, 'armsInterventionsModule': {'armGroups': [{'type': 'OTHER', 'label': 'newborn screening', 'description': '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.', 'interventionNames': ['Diagnostic Test: newborn genetic screening and whole genome sequencing']}], 'interventions': [{'name': 'newborn genetic screening and whole genome sequencing', 'type': 'DIAGNOSTIC_TEST', 'description': 'newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)', 'armGroupLabels': ['newborn screening']}]}, 'contactsLocationsModule': {'locations': [{'zip': '21079', 'city': 'Dijon', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Laurence Faivre, Professor', 'role': 'CONTACT', 'email': 'laurence.faivre@chu-dijon.fr', 'phone': '+ 33 380 295 313'}, {'name': 'Emeline Davoine', 'role': 'CONTACT', 'email': 'emeline.davoine@chu-dijon.fr'}, {'name': 'Laurence Faivre, Professor', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants", 'geoPoint': {'lat': 47.31344, 'lon': 5.01391}}, {'zip': '79106', 'city': 'Freiburg im Breisgau', 'status': 'RECRUITING', 'country': 'Germany', 'contacts': [{'name': 'Janbernd Kirschner, Professor', 'role': 'CONTACT', 'email': 'kjk.screen4care@uniklinik-freiburg.de', 'phone': '+49 761 270-43650'}, {'name': 'Kathrin Freyler, Dr.', 'role': 'CONTACT', 'email': 'kathrin.freyler@uniklinik-freiburg.de'}, {'name': 'Janbernd Kirschner, Professor', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': 'Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center', 'geoPoint': {'lat': 47.9959, 'lon': 7.85222}}, {'zip': '00165', 'city': 'Rome', 'state': 'Lazio', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Enrico S Bertini', 'role': 'CONTACT', 'email': 'enricosilvio.bertini@opbg.net', 'phone': '+39 0668592104'}], 'facility': 'Ospedale Pediatrivo Bambino Gesu IRCCS', 'geoPoint': {'lat': 41.89193, 'lon': 12.51133}}, {'zip': '44122', 'city': 'Ferrara', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Alessandra Ferlini, Professor', 'role': 'CONTACT', 'email': 'screen4care@unife.it', 'phone': '+39 0532 974439'}, {'name': 'Fernanda Fortunato', 'role': 'CONTACT', 'email': 'frtfnn@unife.it'}, {'name': 'Alessandra Ferlini, Professor', 'role': 'PRINCIPAL_INVESTIGATOR'}], 'facility': "Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna", 'geoPoint': {'lat': 44.83804, 'lon': 11.62057}}, {'zip': '41100', 'city': 'Modena', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Prof. Alberto Berardi', 'role': 'CONTACT', 'email': 'alberto.berardi@unimore.it'}, {'name': 'Dr Licia Lugli', 'role': 'CONTACT', 'email': 'licia.lugli@gmail.com'}], 'facility': 'Azienda Ospedaliero Universitaria di Modena, Neonatology Unit', 'geoPoint': {'lat': 44.64783, 'lon': 10.92539}}, {'zip': '00189', 'city': 'Roma', 'status': 'RECRUITING', 'country': 'Italy', 'contacts': [{'name': 'Prof. Marco Bonito, UOC Obstetrics and Gynecology', 'role': 'CONTACT', 'email': 'bonito.marco@fbfrm.it'}, {'name': 'Dott.ssa Maria Eleonora Scapillati, UOC Pediatrics and Neonatology', 'role': 'CONTACT', 'email': 'scapillati.eleonora@fbfrm.it'}], 'facility': 'San Pietro Fatebenefratelli Hospital', 'geoPoint': {'lat': 44.99364, 'lon': 11.10642}}], 'centralContacts': [{'name': 'Alessandra Ferlini, Professor', 'role': 'CONTACT', 'email': 'screen4care@unife.it', 'phone': '+39 0532 974439'}], 'overallOfficials': [{'name': 'Alessandra Ferlini, Professor', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': "Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna"}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'University Hospital Freiburg', 'class': 'OTHER'}, 'collaborators': [{'name': 'Innovative Medicines Initiative', 'class': 'OTHER'}, {'name': 'Università degli Studi di Ferrara', 'class': 'OTHER'}, {'name': 'Ospedale Pediatrico Bambin Gesù', 'class': 'OTHER'}, {'name': 'University of Siena', 'class': 'OTHER'}, {'name': 'Centre Hospitalier Universitaire Dijon', 'class': 'OTHER'}, {'name': 'Real Genix', 'class': 'UNKNOWN'}, {'name': 'University Hospital Goettingen', 'class': 'OTHER'}, {'name': 'Centro Nacional de Análisis Genómico', 'class': 'UNKNOWN'}, {'name': 'Genoox', 'class': 'UNKNOWN'}, {'name': 'Schwarzwald-Baar Clinic', 'class': 'UNKNOWN'}, {'name': 'Municipal Hospital Karlsruhe', 'class': 'UNKNOWN'}], 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'Prof. Dr.', 'investigatorFullName': 'Jan Kirschner', 'investigatorAffiliation': 'University Hospital Freiburg'}}}}