A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Additional blood sampling.
- Who it may be relevant to
- Registry conditions: Neonatal Screening, Lysosomal Storage Diseases. Basic parameters: 1 Day — 4 Days · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- France
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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
- Procedure Additional blood sampling
Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program
Primary outcome measures
- Number of newborns in relation to the number of cases of blotting paper collected [Time frame: From day 2 to day 4]
Secondary outcome measures (2)
- Number of newborns with positive sample for Mucopolysaccharidosis type I [Time frame: From day 2 to day 4]
- Number of newborns with positive sample for Pompe disease [Time frame: From day 2 to day 4]
Eligibility 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
France · 2 centers
- Caen University Hospital — Caen
- Rouen University Hospital — Rouen
Identifiers
NCT: NCT04393701 · 2020/0007/HP