A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
University Hospital, Rouen
100,000 participants
Mar 8, 2021
INTERVENTIONAL
Conditions
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
Inclusion Criteria3
- 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 Criteria1
- 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.
Interested in this trial?
Get notified about updates and connect with the research team.
Interventions
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Locations(2)
View Full Details on ClinicalTrials.gov
For the most up-to-date information, visit the official listing.
NCT04393701