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Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria

This study is currently Recruiting

March 2011 By National Institutes of Health Clinical Center (CC)

First Recieved on June 13, 2000

Last Updated on April 15, 2011

Sponsor: National Human Genome Research Institute (NHGRI)
Information provided by: National Institutes of Health Clinical Center (CC)
Identifier: NCT00005909


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 one month old may be eligible for this study. Participants will be evaluated at NIH's Clinical Center for 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 also have a skin biopsy (removal of a small piece of skin, done under local anesthetic), 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. 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. ...

Study Type: Observational
Study Design: N/A


Ages Eligible for Study:2 Years
Genders Eligible for Study:Both
Accepts Healthy Volunteers:No

- INCLUSION CRITERIA: All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. EXCLUSION CRITERIA: Patients will be excluded if they cannot travel to the NIH due to their medical condition, are less than two years old, or are in imminent danger of death due to, e.g., cardiac involvement.



  • National Institutes of Health Clinical Center, 9000 Rockville Pike

    Bethesda, Maryland 20892 United States

Conditions related to this trial:

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