100,000 newborns to be screened for rare diseases in france

NCT ID NCT04393701

Recruiting now Knowledge-focused Sponsor: University Hospital, Rouen Source: ClinicalTrials.gov ↗

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.

This is an AI summary of the original study and may miss details. Read our disclaimer.

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Conditions

The condition(s) this trial relates to.

lysosomal storage disease

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

LYSOSOMAL STORAGE DISEASES NEONATAL SCREENING

Contacts and locations

Locations

Caen University Hospital
RECRUITING

Caen, France
Rouen University Hospital
RECRUITING

Rouen, France

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