New test aims to close loophole in devastating disease screening

NCT ID NCT07332702

Summary

This study is testing a new, more detailed genetic analysis method to better identify people who carry the gene for Spinal Muscular Atrophy (SMA). Current carrier tests can miss some people who have a specific, hard-to-detect genetic pattern. The goal is to improve screening so couples can get more accurate information about their risk of having a child with this serious disease.

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Contacts and locations

Study contacts

  • Contact

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

Locations

  • CHU Rouen

    RECRUITING

    Rouen, France

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

Conditions

Explore the condition pages connected to this study.