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

Recruitingn/aAges 1 Day - 4 DaysAllUniversity Hospital, Rouen
NCT04393701 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

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).

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📋 Eligibility rules (as published)
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.
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What it tests

  • Additional blood sampling
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Where

2 sites
Caen University Hospital
Caen, France
Rouen University Hospital
Rouen, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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