Condition: Newborn Screening · Sponsor: University Hospital Freiburg
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.
This description comes directly from the study's public registry record.
Alessandra Ferlini, Professor · +39 0532 974439 · screen4care@unife.it
Always discuss trial participation with your own doctor first.
| 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 |
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Source record: clinicaltrials.gov/study/NCT06549218