Actively Recruiting
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Led by University Hospital, Rouen · Updated on 2025-09-11
100000
Participants Needed
2
Research Sites
300 weeks
Total Duration
On this page
Sponsors
U
University Hospital, Rouen
Lead Sponsor
U
University Hospital, Caen
Collaborating Sponsor
AI-Summary
What this Trial Is About
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).
CONDITIONS
Official Title
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- 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
You will not qualify if you...
- 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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Trial Site Locations
Total: 2 locations
1
Caen University Hospital
Caen, France
Actively Recruiting
2
Rouen University Hospital
Rouen, France
Actively Recruiting
Research Team
S
Soumeya BEKRI, Pr
CONTACT
J
Julien BLOT
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
DIAGNOSTIC
Number of Arms
1
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