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Clinical Trials in France / NCT04393701
Recruiting Observational

A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

NCT04393701 · tracked via the Priya Life Science France tracker
Sponsor
University Hospital, Rouen
Phase
Observational
Started
2021-03-08
Last updated
2026-05-27

Condition(s) studied

Neonatal ScreeningLysosomal Storage Diseases

Investigational drug(s) / intervention(s)

Additional blood sampling

Additional blood sampling: Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program

Study summary

The study will include all newborns in Normandie region for 3 years (about 105,000 births) for whom signed consent by one (or two) parents will be collected. Based on our previous pilot study (2011) assessing MCAD and PKU using tandem mass spectrometry-based method in Normandie region in which informed consents have been signed for all newborns (43,000) but we are expecting a great willingness to participate to this project. Thus, we are aiming to include 100,000 newborns, and the study will be continued until we reach at least this target.

The primary objective is to evaluate the epidemiology of MPS1 and Pompe disease using dried blood samples in the first cohort of neonates tested in France (Normandie region).

Eligibility

Sex
ALL
Min age
1 Day
Max age
4 Days
Healthy volunteers
No
Inclusion Criteria: * Newborn in a Normandy maternity hospital * Newborn participating in the National Neonatal Screening Program * Holder(s) of parental authority having read and understood the information letter and signed the informed consent form Exclusion Criteria: There are no criteria for non-inclusion in this study. Participation in the study, such as participation in the National Neonatal Screening Program, is not mandatory.

Primary outcome measure(s)

  • Number of newborns in relation to the number of cases of blotting paper collected — From day 2 to day 4

Trial sites (2)

FacilityCityRegionStatus
Caen University Hospital Caen France Recruiting
Rouen University Hospital Rouen France Recruiting

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Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT04393701 on ClinicalTrials.gov ↗ ← All trials in France