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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Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.
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Contacts and locations
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Azienda Ospedaliero Universitaria di Modena, Neonatology Unit
RECRUITINGModena, 41100, Italy
Contact Email: •••••@•••••
Contact Email: •••••@•••••
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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
Contact Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••
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Clinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
RECRUITINGFreiburg im Breisgau, 79106, Germany
Contact Phone: •••-•••-•••• Email: •••••@•••••
Contact
Contact Email: •••••@•••••
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Ospedale Pediatrivo Bambino Gesu IRCCS
RECRUITINGRome, Lazio, 00165, Italy
Contact Phone: •••-•••-•••• Email: •••••@•••••
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San Pietro Fatebenefratelli Hospital
RECRUITINGRoma, 00189, Italy
Contact Email: •••••@•••••
Contact Email: •••••@•••••
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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
Contact Email: •••••@•••••
Contact Phone: •••-•••-•••• Email: •••••@•••••