NIH launches quest to unlock genetic secrets of rare bone tumor diseases

NCT ID NCT06749366

First seen Jan 30, 2026 · Last updated May 16, 2026 · Updated 15 times

Summary

This study aims to find the genes that cause Ollier disease and Maffucci syndrome, rare conditions that lead to cartilage tumors and blood vessel problems. Researchers will study 100 people aged 2 and older with these disorders using blood tests, scans, and genetic analysis. Participants will stay at the NIH clinic for 5 days for exams and imaging. The goal is to better understand what causes these diseases, not to test a treatment.

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Contacts and locations

Study contacts

  • Contact

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

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

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

Conditions

Explore the condition pages connected to this study.