A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry

study id #: NCT04393701

condition: Neonatal Screening, Lysosomal Storage Diseases

status: Recruiting

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

results: https://clinicaltrials.gov/ct2/show/results/NCT04393701

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

primary outcomes:

• Number of newborns in relation to the number of cases of blotting paper collected
  
• From day 2 to day 4
  

secondary outcomes:

• 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

inclusion criteria:

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.

sponsor: University Hospital, Rouen

contacts: Soumeya BEKRI, Pr, +3323288, soumeya.bekri@chu-rouen.fr

investigators: Soumeya BEKRI, Pr,Rouen University Hospital

trial center locations: France

• France
  Caen University Hospital
  David GUENET, MD
  
  
• France
  Rouen University Hospital
  Soumeya BEKRI, +3323288, soumeya.bekri@chu-rouen.fr