Study of Alkaptonuria
This study aims to better understand alkaptonuria, a rare genetic disease where a pigment called homogentisic acid builds up in the body, causing problems like arthritis, bone fractures, and heart issues. Researchers will collect medical information using modern techniques like cardiac CT, MRI, and echocardiograms. This information will help prepare for future drug trials. You may be able to join if you have alkaptonuria and are at least two years old. The study is ongoing and plans to enroll up to 300 participants. There are no specific interventions or drugs being tested in this observational study.
- Study design
- This is an observational study planning to enroll up to 300 participants with alkaptonuria.
- What's involved
- Participants will be evaluated at the NIH Clinical Center for 3 to 5 days every 2 to 3 years.
- Compensation
- Not stated in the trial record.
- Follow-up
- The primary endpoint is measured at 'Ongoing', suggesting continuous follow-up.
AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.
Study of Alkaptonuria
At a glance
Conditions
Where it's being run
1 sites across 1 statesStudy leadership
- Wendy J Introne, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)
Who to contact
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What this trial measures
- To delineate the clinical and laboratory findings of alkaptonuria, using state-of-the-art medical technology such as cardiac CT, MRI, and echocardiograms.Ongoing
To delineate the clinical and laboratory findings of alkaptonuria, using state-of-the-art medical technology such as cardiac CT, MRI, and echocardiograms.