A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
LysoNeo
1 other identifier
interventional
100,000
1 country
2
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).
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for not_applicable
Started Mar 2021
Longer than P75 for not_applicable
2 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
First Submitted
Initial submission to the registry
May 14, 2020
CompletedFirst Posted
Study publicly available on registry
May 19, 2020
CompletedStudy Start
First participant enrolled
March 8, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 8, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 8, 2026
September 11, 2025
September 1, 2025
5.8 years
May 14, 2020
September 10, 2025
Conditions
Outcome Measures
Primary Outcomes (1)
Number of newborns in relation to the number of cases of blotting paper collected
From day 2 to day 4
Secondary Outcomes (2)
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
Study Arms (1)
neonates tested in Normandie, France
EXPERIMENTALAll neonates will be tested in Normandie
Interventions
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Eligibility Criteria
You may qualify if:
- 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
Contact the study team to confirm eligibility.
Sponsors & Collaborators
- University Hospital, Rouenlead
- University Hospital, Caencollaborator
Study Sites (2)
Caen University Hospital
Caen, France
Rouen University Hospital
Rouen, France
MeSH Terms
Conditions
Condition Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Soumeya BEKRI, Pr
University Hospital, Rouen
Central Study Contacts
Study Design
- Study Type
- interventional
- Phase
- not applicable
- Allocation
- NA
- Masking
- NONE
- Purpose
- DIAGNOSTIC
- Intervention Model
- SINGLE GROUP
- Sponsor Type
- OTHER
- Responsible Party
- SPONSOR
Study Record Dates
First Submitted
May 14, 2020
First Posted
May 19, 2020
Study Start
March 8, 2021
Primary Completion (Estimated)
December 8, 2026
Study Completion (Estimated)
December 8, 2026
Last Updated
September 11, 2025
Record last verified: 2025-09
Data Sharing
- IPD Sharing
- Will not share