Interventional Recruiting
NCT06549218 on ClinicalTrials.gov
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Official title: 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
- Sponsor: University Medical Center Freiburg
- Collaborators: Innovative Medicines Initiative, Università degli Studi di Ferrara, Ospedale Pediatrico Bambin Gesù, University of Siena, Centre Hospitalier Universitaire Dijon, Real Genix, University Hospital Goettingen, Centro Nacional de Análisis Genómico, Genoox, Municipal Hospital Karlsruhe, Schwarzwald-Baar Hospital, Illumina, Inc., Charite University, Berlin, Germany, Brno University Hospital, General Hospital Of Thessaloniki Ippokratio, San Camillo Hospital, Rome, University of Rzeszow, Hospital San Pietro Fatebenefratelli
- Enrollment: 20000 (Estimated)
- Study start: 2024-12-03 (Actual)
- Primary completion: 2026-12-01 (Estimated)
- Study completion: 2026-12-01 (Estimated)
- Allocation: N/a
- InterventionModel: Single Group
- Masking: None
- PrimaryPurpose: Screening
Brief Summary
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.
To 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.
Conditions
- Newborn Screening
Intervention / Treatment
- Diagnostic Test: newborn genetic screening and whole genome sequencing
Primary Outcome Measures
-
TREAT-panel
(1 year)
• Percentage of eligible couples who will accept to participate to the genetic newborn screening -
TREAT-panel
(1 year)
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified -
Whole Genome Sequencing
(2 years)
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing -
Whole Genome Sequencing
(2 years)
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients -
Whole Genome Sequencing
(2 years)
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
Countries
France, Germany, Italy
Locations and Investigators
- Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants, Dijon, France (Completed)
-
Charité University Medicine Berlin, Berlin, Germany (Recruiting)
- Peter Kühnen, Prof. Dr.
- Janka K Hindricks, Dr.
-
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center, Freiburg im Breisgau, Germany (Recruiting)
- Janbernd Kirschner, Professor
- Kathrin Freyler, Dr.
- Janbernd Kirschner, Professor (Principal Investigator)
-
University Medical Center Göttingen, Clinic for Neurology, Göttingen, Germany (Recruiting)
- Jana Zschüntzsch, Priv.-Doz. Dr.
- Elisabeth Nyoungui
-
Ospedale Pediatrivo Bambino Gesu IRCCS, Rome, Italy (Recruiting)
- Enrico S Bertini
- Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna, Ferrara, Italy (Completed)
-
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit, Modena, Italy (Recruiting)
- Prof. Alberto Berardi
- Dr Licia Lugli
-
San Pietro Fatebenefratelli Hospital, Roma, Italy (Recruiting)
- Prof. Marco Bonito, UOC Obstetrics and Gynecology
- Dott.ssa Maria Eleonora Scapillati, UOC Pediatrics and Neonatology
Study Officials
- Alessandra Ferlini, Professor (Principal Investigator) — Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna