Scientists seek answers for rare, Life-Limiting genetic disorder

NCT ID NCT00001456

Summary

This study aims to better understand Hermansky-Pudlak Syndrome (HPS), a rare inherited disease that causes albinism, bleeding problems, and serious lung and organ complications. Researchers will evaluate up to 600 participants with HPS or their family members to track the disease's progression, identify genetic causes, and collect samples for future research. The goal is to gather knowledge about HPS, as there is currently no known cure or specific treatment.

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Contacts and locations

Study contacts

  • Contact

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

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States

Conditions

Explore the condition pages connected to this study.