A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age1-4
SponsorUniversity Hospital, Rouen
About this trial
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).
Eligibility criteria
Qualifiers
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
Disqualifiers
None
Trial design
Treatments tested in this trial
- Additional blood sampling
Treatment groups
100,000 Participants
are divided into 1 treatment groupSponsors and collaborators
University Hospital, Rouen
Lead sponsor
University Hospital, Caen
Collaborator
Source ClinicalTrials.gov