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Study identifier: NCT04393701 Synced from ClinicalTrials.gov · July 29, 2026
● Recruiting

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

Condition: Neonatal Screening · Lysosomal Storage Diseases  ·  Sponsor: University Hospital, Rouen

PhaseN/A
Planned participants100000
Who can joinAll sexes, 1 Day to 4 Days
Healthy volunteersNo

About this study

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).

This description comes directly from the study's public registry record.

Talk to the study team

Soumeya BEKRI, Pr  ·  +3323288  ·  soumeya.bekri@chu-rouen.fr

Julien BLOT  ·  +3323288  ·  julien.blot@chu-rouen.fr

Always discuss trial participation with your own doctor first.

Locations (2)

Caen University HospitalCaen, FranceRecruiting
Rouen University HospitalRouen, FranceRecruiting

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Source record: clinicaltrials.gov/study/NCT04393701