This study is currently recruiting participants.
National Human Genome Research Institute (NHGRI)
Type: Participants currently recruited/enrolled Gender: Male & Female Min Age: 2 Years Max Age: N/A
Referral Letter Required
Homogentisic Acid; Ochronosis; Inborn Error of Metabolism; Arthritis; Enzyme Defect; Natural History
National Human Genome Research Institute
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.
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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.
All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission.
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.
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