NIH launches study to unlock secrets of rare 'Black Urine' disease

NCT ID NCT00005909

First seen Jun 27, 2026 · Last updated Jul 29, 2026 · Updated 4 times

Summary

This study aims to learn more about alkaptonuria, a rare genetic disease that causes a pigment to build up in bones and tissues, leading to arthritis and other problems. Researchers will evaluate 300 patients over several years using advanced medical tests. The goal is to better understand the disease and prepare for future clinical trials of a new drug.

What this could mean

Our plain-language read of the trial. This is informational only — not medical advice or a prediction.

What this could lead to
If successful, this study will provide crucial data to design future trials for a drug that blocks the harmful pigment buildup in alkaptonuria.
What could go wrong
This is an observational study, not a treatment trial. It does not test any new therapy, so there is no direct benefit to participants. The findings may not lead to a successful drug.

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Conditions

The condition(s) this trial relates to.

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Contacts and locations

Locations

  • National Institutes of Health Clinical Center

    RECRUITING

    Bethesda, Maryland, 20892, United States