Rare disease study aims to unlock secrets of alkaptonuria
NCT ID NCT00005909
First seen Nov 21, 2025 · Last updated May 24, 2026 · Updated 26 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 300 patients aged 2 and older every 2 to 3 years using modern medical tests like scans and heart exams. The goal is to collect detailed information to improve patient care and pave the way for future drug trials.
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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.
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
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Study contacts
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Contact
Phone: •••-•••-•••• Email: •••••@•••••
Locations
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National Institutes of Health Clinical Center
RECRUITINGBethesda, Maryland, 20892, United States
Contact Phone: •••-•••-•••• Email: •••••@•••••
Conditions
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