Condition: Neonatal Screening · Lysosomal Storage Diseases · Sponsor: University Hospital, Rouen
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).
This description comes directly from the study's public registry record.
Soumeya BEKRI, Pr · +3323288 · soumeya.bekri@chu-rouen.fr
Julien BLOT · +3323288 · julien.blot@chu-rouen.fr
Always discuss trial participation with your own doctor first.
| Caen University Hospital | Caen, France | Recruiting |
| Rouen University Hospital | Rouen, France | Recruiting |
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Source record: clinicaltrials.gov/study/NCT04393701