100,000 newborns to be screened for rare diseases in france
NCT ID NCT04393701
First seen Jun 26, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study will screen about 100,000 newborns in Normandy, France for two rare lysosomal storage diseases: MPS1 and Pompe disease. Researchers will take an extra blood sample from each baby to see how many have these conditions. The goal is to understand how common these diseases are and to test the screening method, not to provide treatment.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
What this could lead to
If successful, this could show that large-scale newborn screening for these rare diseases is feasible, leading to earlier diagnosis and care.
What could go wrong
This is an observational screening study, not a treatment trial. It only measures how many babies have the condition, and may not change outcomes without effective therapies.
Disclaimer
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This is a summary of
the original study
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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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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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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: •••••@•••••