Genetic screening for rare diseases in newborns
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
Run by University Hospital Freiburg · NCT06549218 · Data updated 2026-11-12
This study is testing if genetic screening can help find and treat rare diseases in newborns early on, giving families better options for care.
Quick facts
| Study type | Interventional |
|---|---|
| Ages | Any age to 2 Years |
| Sex | All |
| Enrollment | 20000 (estimated) |
| Sponsor | University Hospital Freiburg Academic / other |
| Locations | 8 sites (Dijon and 7 other locations) |
| Status | Recruiting |
| Started | December 3, 2024 |
| Main results expected | December 2026 |
| Study ends | December 2026 |
| Registry record updated | May 4, 2026 |
| Trial ID | NCT06549218 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal candidates for this study are newborns born in participating hospitals whose parents provide informed consent for genetic screening.
✕Probably not a fit
Patients who do not have informed consent from their parents or guardians will not benefit from this study.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This project aims to enhance the diagnosis and early intervention for rare diseases in newborns through genetic screening. Families expecting a baby will be offered a TREAT-panel approach for currently treatable rare diseases, and whole genome sequencing will be available for infants who show symptoms of a genetic condition within the first two years. The study will also evaluate the impact of genetic screening on participating families through standardized follow-up questionnaires.
Why it matters
Potential benefit: If successful, this approach could lead to earlier diagnosis and treatment of rare diseases in newborns, improving health outcomes.
How similar studies have gone: Other studies have shown promise in genetic screening for early diagnosis of rare diseases, indicating that this approach is both relevant and potentially effective.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * 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 Criteria: * Missing informed consent of parents/legal guardian
Where it's running
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Charité University Medicine Berlin
Berlin, Germany Recruiting -
Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, Germany Recruiting -
University Medical Center Göttingen, Clinic for Neurology
Göttingen, Germany Recruiting -
Ospedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, Italy Recruiting -
Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
Modena, Italy Recruiting -
San Pietro Fatebenefratelli Hospital
Roma, Italy Recruiting
Show 2 more locations
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Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, France Completed -
Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, Italy Completed
Study contacts
- Principal investigator: Alessandra Ferlini, Professor — Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
- Study coordinator: Alessandra Ferlini, Professor
- Email: screen4care@unife.it
- Phone: +39 0532 974439
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.