Neonatal Screening research hub

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

This study in the Normandie region of France is looking for babies between 1 and 4 days old. We want to find out how common two rare conditions, MPS1 and Pompe disease, are in newborns. We'll do this by testing dried blood samples collected at birth, similar to the routine newborn screening.