Rare disease study opens door to new drug trials

NCT ID NCT00005909

First seen Nov 21, 2025 · Last updated May 15, 2026 · Updated 24 times

Summary

This study aims to better understand alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis, fractures, and other problems. Researchers will evaluate up to 300 patients aged 2 and older with thorough medical tests every 2 to 3 years. The information gathered will help doctors advise patients and pave the way for future clinical trials of a new drug that blocks the harmful pigment.

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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

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

Conditions

Explore the condition pages connected to this study.