New study screens 20,000 newborns for rare diseases using genetic testing
NCT ID NCT06549218
First seen May 06, 2026 · Last updated May 08, 2026 · Updated 2 times
Summary
This study offers genetic screening to 20,000 newborns to detect treatable rare diseases early. Families expecting a baby can choose to have their newborn's DNA tested for a set of currently treatable conditions. If a baby develops symptoms of a genetic disease in the first two years, whole genome sequencing is also offered. The goal is to shorten the long road to diagnosis and allow early treatment.
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This is a summary of
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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: •••••@•••••
Conditions
Explore the condition pages connected to this study.