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NCT Number: NCT04393701

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

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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Key information

Conditions

Neonatal Screening Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Lysosomal Storage Diseases Metabolic Diseases Metabolism, Inborn Errors Nutritional and Metabolic Diseases

Age range

1 day–4 day

Sex eligibility

All sexes

Study type

Observational

Primary location

Caen University Hospital, Caen, France

Loading trial locations.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Additional blood sampling

Procedure

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

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

Study contacts

Contact information is provided by the study sponsor or research team.

Julien BLOT

CONTACT

[email protected]

+3323288 ext. 8265

Soumeya BEKRI, Pr

CONTACT

[email protected]

+3323288 ext. 8990

Sponsors and collaborators

Lead sponsor

University Hospital, Rouen

Other

Collaborators

  • University Hospital, Caen

Registry information

Acronym: LysoNeo

Important dates

Study start
2021
Primary completion
2026
Study completion
2026
First posted
May 19, 2020
Registry last updated
May 27, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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