Genetic screening for rare diseases in newborns
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
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 20000 (estimated) |
| Ages | N/A to 2 Years |
| Sex | All |
| Sponsor | University Hospital Freiburg Academic / other |
| Locations | 8 sites (Dijon and 7 other locations) |
| Trial ID | NCT06549218 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates for this study are newborns born in participating hospitals whose parents provide informed consent for genetic screening.
Not a fit: Patients who do not have informed consent from their parents or guardians will not benefit from this study.
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 performed: Other studies have shown promise in genetic screening for early diagnosis of rare diseases, indicating that this approach is both relevant and potentially effective.
Eligibility criteria
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 this trial is running
Dijon and 7 other locations
- Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants — Dijon, France (Completed)
- 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)
- Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna — Ferrara, Italy (Completed)
- Azienda Ospedaliero Universitaria di Modena, Neonatology Unit — Modena, Italy (Recruiting)
- San Pietro Fatebenefratelli Hospital — Roma, Italy (Recruiting)
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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.