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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

100000 participants

Study Classification

INTERVENTIONAL

Study Start Date

2021-03-08

Study Completion Date

2026-12-08

Brief Summary

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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).

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Detailed Description

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Conditions

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Neonatal Screening Lysosomal Storage Diseases

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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neonates tested in Normandie, France

All neonates will be tested in Normandie

Group Type EXPERIMENTAL

Additional blood sampling

Intervention Type PROCEDURE

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

Interventions

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Additional blood sampling

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

Intervention Type PROCEDURE

Eligibility Criteria

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Inclusion Criteria

* 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

Exclusion 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.

Minimum Eligible Age

1 Day

Maximum Eligible Age

4 Days

Eligible Sex

ALL

Accepts Healthy Volunteers

No