A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
study id #: NCT04393701
condition: Neonatal Screening, Lysosomal Storage Diseases
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).
intervention: Additional blood sampling
last updated: February 26, 2022
start date: March 8, 2021
estimated completion: March 2024
last updated: October 20, 2021
phase of development: Not Applicable
size / enrollment: 100000
- Number of newborns in relation to the number of cases of blotting paper collected
- From day 2 to day 4
- 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
• Eligible Sexes: all
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: 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.
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