A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Sponsor
- Enrollment
- 100,000
- Locations
- 2
- Primary Endpoint
- Number of newborns in relation to the number of cases of blotting paper collected
Study Overview
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).
Study Design
- Study Type
- Observational
- Observational Model
- Cohort
- Time Perspective
- Cross Sectional
Eligibility Criteria
- Ages
- 1 Day to 4 Days (Child)
- Sex
- All
- Accepts Healthy Volunteers
- No
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.
Arms & Interventions
neonates tested in Normandie, France
All neonates will be tested in Normandie
Intervention: Additional blood sampling (Procedure)
Outcomes
Primary Outcomes
Number of newborns in relation to the number of cases of blotting paper collected
Time Frame: From day 2 to day 4
Secondary Outcomes
- 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)