FREE TREATMENT REPORT
See ratings and reviews when you sign up for an account.
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
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
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.
Resources/Links provided by NLM:
|Study Start Date:
|Estimated Primary Completion Date:
|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.
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