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).
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
100,000
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Caen University Hospital
Caen, France
RECRUITINGRouen University Hospital
Rouen, France
RECRUITINGNumber of newborns in relation to the number of cases of blotting paper collected
Time frame: From day 2 to day 4
Number of newborns with positive sample for Mucopolysaccharidosis type I
Time frame: From day 2 to day 4
Number of newborns with positive sample for Pompe disease
Time frame: From day 2 to day 4
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