Actively Recruiting
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Led by University Hospital, Rouen · Updated on 2026-05-27
100000
Participants Needed
2
Research Sites
N/A
Total Duration
On this page
Sponsors
U
University Hospital, Rouen
Lead Sponsor
U
University Hospital, Caen
Collaborating Sponsor
AI-Summary
What this Trial Is About
Researchers are conducting a study to systematically screen newborns in the Normandy region for lysosomal storage diseases such as Mucopolysaccharidosis type I and Pompe disease. This observational study aims to evaluate the occurrence and epidemiology of these diseases using dried blood samples collected from newborns. The study is based on previous pilot work and seeks to include about 100,000 newborns over a period of three years. All newborns born in Normandy maternity hospitals who are participating in the national neonatal screening program will have additional blood samples collected on blotting paper for this study. The screening occurs within the first few days after birth, typically from day 2 to day 4. The study will continue until the target number of participants is reached. Participants will have blood samples collected as part of routine neonatal screening, with extra samples taken specifically for this research. The main outcome measured is the number of newborns screened relative to the number of samples collected. Secondary outcomes include the number of positive cases detected for Mucopolysaccharidosis type I and Pompe disease. The study involves parental consent and monitors newborns during these early days, with no further intervention or long-term follow-up described.
CONDITIONS
Brief Title
A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Newborn in a Normandy maternity hospital
- Newborn participating in the National Neonatal Screening Program
- Parent(s) have read and understood the information letter and signed the informed consent form
You will not qualify if you...
- There are no exclusion criteria; participation is voluntary and not mandatory
Research Team
S
Soumeya BEKRI, Pr
J
Julien BLOT
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