100,000 newborns to be screened for rare genetic diseases in normandy
NCT ID NCT04393701
First seen Oct 01, 2025 · Last updated May 23, 2026 · Updated 35 times
Summary
This study aims to screen about 100,000 newborns in Normandy, France, for two rare lysosomal storage diseases: MPS1 and Pompe disease. Using a blood spot test (tandem mass spectrometry), researchers want to see how common these conditions are and improve early detection. Parents must give consent for their baby to participate.
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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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Genom att skicka in godkänner du våra Användarvillkor
Contacts and locations
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Genom att skicka in godkänner du våra Användarvillkor
Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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Caen University Hospital
RECRUITINGCaen, France
Contact
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Rouen University Hospital
RECRUITINGRouen, France
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
Explore the condition pages connected to this study.