Systematic newborn screening for lysosomal storage diseases using mass spectrometry in Normandy
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
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
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100000 (estimated) |
| Ages | 1 Day to 4 Days |
| Sex | All |
| Sponsor | University Hospital, Rouen Academic / other |
| Locations | 2 sites (Caen and 1 other locations) |
| Trial ID | NCT04393701 on ClinicalTrials.gov |
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.
Who should consider this trial
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.
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.
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 performed: 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.
Eligibility criteria
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 this trial is running
Caen and 1 other locations
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.