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

This study is testing whether a blood spot taken from a standard newborn screening card can also detect lysosomal storage diseases (LSDs) — a group of rare inherited conditions where enzymes needed to break down certain substances are missing or don't work properly. These include diseases like Gaucher disease, Fabry disease, and Pompe disease. Early detection through newborn screening can dramatically improve outcomes if treatment is started quickly. The study is a pilot to see if adding LSD testing to the existing national screening program in Normandy, France, is feasible. You may be eligible if... - Your newborn was born in a maternity hospital in Normandy, France - Your baby is already participating in the standard National Neonatal Screening Program - You, as the parent or guardian, have read the information and signed the consent form You may NOT be eligible if... - There are no formal exclusion criteria for this study — participation is voluntary and open to all eligible newborns in the program Talk to your midwife or paediatrician at the maternity hospital about whether this additional screening test can be added to your baby's existing newborn screening sample.