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

ConditionsNeonatal ScreeningLysosomal Storage Diseases
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

This trial does not accept healthy volunteers

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 population

Newborn

Trial design

Design model

Cohort

Time perspective

Cross-sectional

Treatments tested in this trial

  • Additional blood sampling

    Procedure/Surgery

    Additional blood sampling on blotting paper will be done in neonates in Normandy, France, compared to National neonatal screening program

Treatment groups

100,000 Participants
are divided into 1 treatment group
Group A: neonates tested in Normandie, France1 intervention

Trial outcomes

Primary outcomes

1

Number of newborns in relation to the number of cases of blotting paper collected

Time frame
From day 2 to day 4

Secondary outcomes

1

Number of newborns with positive sample for Mucopolysaccharidosis type I

Time frame
From day 2 to day 4
2

Number of newborns with positive sample for Pompe disease

Time frame
From day 2 to day 4

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

University Hospital, Rouen

Lead sponsor

University Hospital, Caen

Collaborator

Source ClinicalTrials.gov
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