Rare disease study seeks to unlock mysteries of Chediak-Higashi syndrome

NCT ID NCT00005917

First seen Oct 31, 2025 · Last updated May 14, 2026 · Updated 24 times

Summary

This study aims to learn more about Chediak-Higashi syndrome, a rare genetic disorder that affects the immune system, bleeding, and skin color. Researchers will observe up to 60 patients aged 1 month to 70 years over time, collecting medical information and blood samples. The goal is to better understand the disease's symptoms, genetic causes, and how it progresses, without offering a direct treatment.

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This is a summary of the original study . Summaries may miss details or leave out important information. Before applying or accepting participation, make sure you have read and understood the full study. Curemydisease.com takes no responsibility whatsoever for anything missed, misunderstood, or acted upon as a result of our summary — we know it does not capture everything.

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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.