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

NCT04393701 · Status: RECRUITING · Phase: NA · Type: INTERVENTIONAL · Enrollment: 100000

Last updated 2025-09-11

No results posted yet for this study

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

PROCEDURE

Additional blood sampling

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

Sponsors & Collaborators

  • University Hospital, Caen

    collaborator OTHER

  • University Hospital, Rouen

    lead OTHER

Principal Investigators

  • Soumeya BEKRI, Pr · University Hospital, Rouen

Study Design

Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Day
Max Age
4 Days
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-03-08
Primary Completion
2026-12-08
Completion
2026-12-08

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04393701 on ClinicalTrials.gov