Actively Recruiting
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Led by University Hospital Freiburg · Updated on 2026-05-04
20000
Participants Needed
8
Research Sites
104 weeks
Total Duration
On this page
Sponsors
U
University Hospital Freiburg
Lead Sponsor
I
Innovative Medicines Initiative
Collaborating Sponsor
AI-Summary
What this Trial Is About
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
Official Title
Genetic Newborn Screening for Rare Diseases Within the Screen4Care Project
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Newborns born in one of the participating hospitals and birth centres
- Informed consent signed by both parents or legal guardians to participate in genetic newborn screening (TREAT-panel)
- Participation in the TREAT-panel study for whole genome sequencing
- Symptoms suggestive of a genetic disease within the first 2 years of life for whole genome sequencing
- Informed consent signed by both parents or legal guardians to participate in both genetic newborn screening (TREAT-panel) and whole genome sequencing
You will not qualify if you...
- Missing informed consent of parents or legal guardians
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 8 locations
1
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, France, 21079
Completed
2
Charité University Medicine Berlin
Berlin, Germany, 13353
Actively Recruiting
3
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, Germany, 79106
Actively Recruiting
4
University Medical Center Göttingen, Clinic for Neurology
Göttingen, Germany, 37075
Actively Recruiting
5
Ospedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, Italy, 00165
Actively Recruiting
6
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, Italy, 44122
Completed
7
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
Modena, Italy, 41100
Actively Recruiting
8
San Pietro Fatebenefratelli Hospital
Roma, Italy, 00189
Actively Recruiting
Research Team
A
Alessandra Ferlini, Professor
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
SCREENING
Number of Arms
1
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