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

Not Applicable

• Conditions: Lysosomal Storage Diseases; Neonatal Screening
• Interventions: Procedure: Additional blood sampling

• Registration Number: NCT04393701
• Lead Sponsor: University Hospital, Rouen

Brief 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).

Detailed Description

Not available

Study Timeline

• Study First Submitted: 2020-05-14
• Study First Submitted QC: 2020-05-14
• Study First Posted: 2020-05-19
• Study Start: 2021-03-08
• Status Verified: 2021-10
• Last Update Submitted: 2021-10-19
• Last Update Posted: 2021-10-20
• Primary Completion: 2024-03
• Study Completion: 2024-03

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 100000

Inclusion Criteria

• 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 Criteria

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.

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
neonates tested in Normandie, France	Additional blood sampling	All neonates will be tested in Normandie

Primary Outcome Measures

Name	Time	Method
Number of newborns in relation to the number of cases of blotting paper collected	From day 2 to day 4

Secondary Outcome Measures

Name	Time	Method
Number of newborns with positive sample for Mucopolysaccharidosis type I	From day 2 to day 4
Number of newborns with positive sample for Pompe disease	From day 2 to day 4

Trial Locations

Locations (2)

Caen University Hospital; 🇫🇷 Caen, France

Rouen University Hospital; 🇫🇷 Rouen, France