New DNA scan cracks unsolved genetic mysteries in children with birth defects

NCT ID NCT07370792

First seen Feb 01, 2026 · Last updated May 02, 2026 · Updated 14 times

Summary

This study tests a new DNA technique called optical genome mapping (OGM) to find hidden genetic causes in 55 people with multiple birth defects and/or intellectual disability. Standard genetic tests have not found the cause in these participants. The goal is to see if OGM can detect genetic changes that other methods miss, which could improve diagnosis and care.

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Contacts and locations

Study contacts

  • Contact

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

Locations

  • CHU clermont-Ferrand

    RECRUITING

    Clermont-Ferrand, France

    Contact

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

Conditions

Explore the condition pages connected to this study.