NCT00005909

Study of Alkaptonuria

Recruiting now Last updated 31 March 2026

What this trial tests

trial in Alkaptonuria in 300 participants. Currently enrolling.

Timeline

21 June 2000

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	300
Start date	21 June 2000
Sites	1 location across United States

Conditions studied

• Alkaptonuria — all drugs for Alkaptonuria →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 2 to 115, any sex, with Alkaptonuria. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

The purpose of this study is to gain a better understanding of alkaptonuria and collect medical data on patients who may later participate in new drug trials for this rare genetic disease. In alkaptonuria, a pigment called homogentisic acid collects in bone and connective tissue, causing arthritis and eventually bone fractures, and also causes discoloration in the ears and whites of the eyes. Some patients also develop kidney stones and heart valve problems. Alkaptonuria has not been studied for decades; and scientists expect to gain comprehensive clinical information using current medical techniques.

Patients with alkaptonuria who are at least two years of age may be eligible for this study. Participants will be evaluated at NIH s Clinical Center for 3 to 5 days every 2 to 3 years. They will have a medical history, physical examination, routine blood and urine tests. Blood may also be collected to measure a type of collagen that indicates new bone formation and to analyze DNA for genetic studies. 24-hour urine collections will be done to measure organic acids and homogentisic acid excretion, assess overall kidney function, and evaluate bone metabolism. A total of 89.5 ml (about 6 tablespoons) of blood will be drawn for these studies in adults and 51 ml (about 3 tablespoons) in children.

Patients will (may) also have bone X-rays, kidney ultrasound, brain and chest computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans of affected joints, electrocardiograms, echocardiogram, lung function tests, and a hearing test. Photographs of the face and full body (with underwear on) will be taken.

As medically indicated, patients will also have consultations with dentistry and ophthalmology, with physical therapy and rehabilitation medicine for arthritis management, and with cardiology for heart valve evaluation. When appropriate, patients may also have dermatology, pulmonology and neurology consultations.

The information from this study will enable doctors to better advise patients with alkaptonuria about their disease and treatment options. It will also prepare the way for clinical studies of a new drug that blocks production of homogentisic acid.

Publications & conference data

2 peer-reviewed publications reference this trial (live from Europe PMC):

1. Deep Learning Study of Alkaptonuria Spinal Disease Assesses Global and Regional Severity and Detects Occult Treatment Status.
   Flaharty KA, Chandrasekar V, Castillo IJ, Duong D, et al · · 2025 · cited 1× · PMID 40375095 · DOI 10.1002/jimd.70042
2. Development of a radiographic vertebral severity score for evaluation of disease progression in alkaptonuria.
   Rossignol F, Pan KS, Perry MB, Bryant JC, et al · · 2025 · PMID 41072243 · DOI 10.1016/j.ymgme.2025.109251