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

Status: Recruiting
Location: See all (2) locations...
Intervention Type: Procedure
Study Type: Interventional
Study Phase: Not Applicable
SUMMARY

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
Participation Requirements
Sex: All
Minimum Age: 1 day
Maximum Age: 4 days
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
France
Caen University Hospital
RECRUITING
Caen
Rouen University Hospital
RECRUITING
Rouen
Contact Information
Primary
Soumeya BEKRI, Pr
soumeya.bekri@chu-rouen.fr
+3323288
Backup
Julien BLOT
julien.blot@chu-rouen.fr
+3323288
Time Frame
Start Date: 2021-03-08
Estimated Completion Date: 2026-12-08
Participants
Target number of participants: 100000
Treatments
Experimental: neonates tested in Normandie, France
All neonates will be tested in Normandie
Related Therapeutic Areas
Sponsors
Collaborators: University Hospital, Caen
Leads: University Hospital, Rouen

This content was sourced from clinicaltrials.gov