Mass screening of 100,000 babies aims to catch rare diseases at birth

NCT ID NCT04393701

Summary

This study aims to screen 100,000 newborns in France for two rare genetic disorders (MPS I and Pompe disease) using a simple blood spot test. The goal is to understand how common these diseases are and to detect them early, when treatment may be most effective. Participation is voluntary and involves parents giving consent for their newborn's standard screening blood sample to also be tested for these specific conditions.

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Contacts and locations

Study contacts

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

  • Contact

    Phone: •••-•••-•••• Email: •••••@•••••

Locations

  • Caen University Hospital

    RECRUITING

    Caen, France

    Contact

  • Rouen University Hospital

    RECRUITING

    Rouen, France

    Contact Phone: •••-•••-•••• Email: •••••@•••••

Conditions

Explore the condition pages connected to this study.