Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project

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.

NCT Number	NCT06549218
Lead Sponsor	University Hospital 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
Conditions	Newborn Screening
Enrollment	20,000 participants
Start Date	2024-12-03
Primary Completion	2026-12 (estimated)
Study Completion	2026-12 (estimated)
Updated on ClinicalTrials.gov	2026-05-04