Systematic newborn screening for lysosomal storage diseases using mass spectrometry in Normandy
Official title: A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Run by University Hospital, Rouen · NCT04393701 · Data updated 2026-11-12
This project will test a mass spectrometry blood screening for MPS I and Pompe disease in newborns born in Normandy to see how many cases are found.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 1 Day to 4 Days |
| Sex | All |
| Enrollment | 100000 (estimated) |
| Sponsor | University Hospital, Rouen Academic / other |
| Locations | 2 sites (Caen and 1 other locations) |
| Status | Recruiting |
| Started | March 8, 2021 |
| Main results expected | December 8, 2026 |
| Study ends | December 8, 2026 |
| Registry record updated | May 27, 2026 |
| Trial ID | NCT04393701 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Ideal participants are newborns delivered in participating Normandy maternity hospitals who are enrolled in the national neonatal screening program and whose parent(s) provide informed consent.
✕Probably not a fit
Infants born outside participating Normandy hospitals, those whose parents decline consent, and babies with lysosomal conditions not detectable by the assay are unlikely to benefit from this screening.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
Over three years the program will invite all newborns born in Normandie (about 100,000) to have an extra dried blood sample collected with parental consent and analyzed by tandem mass spectrometry. The assay targets lysosomal storage diseases, primarily mucopolysaccharidosis type I (MPS I) and Pompe disease, using methods previously piloted for other metabolic disorders. The primary objective is to define the epidemiology and test feasibility of newborn screening for these conditions in the first large neonatal cohort in France, with enrollment continuing until at least 100,000 infants are included. Additional blood sampling will be collected alongside the national neonatal screening program at participating university hospitals in Caen and Rouen.
Why it matters
Potential benefit: If successful, affected infants could be identified soon after birth so treatment or follow-up can begin earlier, potentially improving long-term outcomes.
How similar studies have gone: Tandem mass spectrometry newborn screening has been successfully used for other metabolic disorders and pilot programs for lysosomal storage diseases have shown feasibility, though large-scale population data for MPS I and Pompe are more limited.
Who can join: the full rules
Show full inclusion / exclusion criteria
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.
Where it's running
-
Caen University Hospital
Caen, France Recruiting -
Rouen University Hospital
Rouen, France Recruiting
Study contacts
- Principal investigator: Soumeya BEKRI, Pr — University Hospital, Rouen
- Study coordinator: Soumeya BEKRI, Pr
- Email: soumeya.bekri@chu-rouen.fr
- Phone: +3323288
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.