Lysosomal Storage Diseases, Neonatal Screening
Conditions
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).
Interventions
PROCEDUREAdditional blood sampling
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Sponsors
University Hospital, Rouen
University Hospital, Caen
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
ALL
Age
1 Days to 4 Days
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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Number of newborns in relation to the number of cases of blotting paper collected | From day 2 to day 4 |
Secondary
| Measure | Time frame |
|---|---|
| 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 |
Countries
France
Contacts
CONTACTSoumeya BEKRI, Pr
CONTACTJulien BLOT
PRINCIPAL_INVESTIGATORSoumeya BEKRI, Pr
University Hospital, Rouen
Outcome results
None listed