Newborn DNA screening could slash time to rare disease diagnosis
NCT ID NCT06549218
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study aims to speed up the diagnosis of rare diseases in newborns by offering genetic screening shortly after birth. About 20,000 families will be invited to participate. The approach uses a targeted gene panel for treatable conditions and, if symptoms appear, whole genome sequencing to find the cause. Researchers will follow up with families to see how screening affects the child's health and family well-being.
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As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
RECRUITINGModena, 41100, Italy
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Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
COMPLETEDDijon, 21079, France
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Charité University Medicine Berlin
RECRUITINGBerlin, 13353, Germany
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Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
RECRUITINGFreiburg im Breisgau, 79106, Germany
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Ospedale Pediatrivo Bambino Gesu IRCCS
RECRUITINGRome, Lazio, 00165, Italy
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San Pietro Fatebenefratelli Hospital
RECRUITINGRoma, 00189, Italy
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Unit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
COMPLETEDFerrara, 44122, Italy
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University Medical Center Göttingen, Clinic for Neurology
RECRUITINGGöttingen, 37075, Germany