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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 20,000 (estimated)
• Sponsor: University Hospital Freiburg · Academic / Other
• Sex: All
• Age: 2 Years
• Healthy volunteers: Accepted

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

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	newborn genetic screening and whole genome sequencing	newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)

Timeline

• Start date: 2024-12-03
• Primary completion: 2025-12-01
• Completion: 2025-12-01
• First posted: 2024-08-12
• Last updated: 2025-07-29

Locations

6 sites across 3 countries: France, Germany, Italy