Status:
RECRUITING
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Lead Sponsor:
University Hospital Freiburg
Collaborating Sponsors:
Innovative Medicines Initiative
Università degli Studi di Ferrara
Conditions:
Newborn Screening
Eligibility:
All Genders
Up to 2 years
Phase:
NA
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 sc...
Eligibility Criteria
Inclusion
- TREAT-panel:
- newborns
- Infants born in one of the participating hospitals and birth centres
- Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel)
- Whole genome sequencing:
- Participation in the TREAT-panel study
- Symptoms suggestive of a genetic disease within the first 2 years of life
- Informed consent signed by both parents/legal guardian to participate in genetic newborn screening (TREAT-panel) and the whole genome sequencing
Exclusion
- Missing informed consent of parents/legal guardian
Key Trial Info
Start Date :
December 3 2024
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
December 1 2025
Estimated Enrollment :
20000 Patients enrolled
Trial Details
Trial ID
NCT06549218
Start Date
December 3 2024
End Date
December 1 2025
Last Update
July 29 2025
Active Locations (6)
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1
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, France, 21079
2
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, Germany, 79106
3
Ospedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, Italy, 00165
4
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, Italy, 44122