NCT04393701

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

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 100,000 (estimated)
• Sponsor: University Hospital, Rouen · Academic / Other
• Sex: All
• Age: 1 Day – 4 Days
• Healthy volunteers: Not accepted

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).

Conditions

• Neonatal Screening
• Lysosomal Storage Diseases

Interventions

Type	Name	Description
PROCEDURE	Additional blood sampling	Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program

Timeline

• Start date: 2021-03-08
• Primary completion: 2026-12-08
• Completion: 2026-12-08
• First posted: 2020-05-19
• Last updated: 2025-09-11

Locations

2 sites across 1 country: France