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Protocol Details

Clinical, Biochemical, and Molecular Investigations into Alkaptonuria

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

00-HG-0141

Sponsoring Institute

National Human Genome Research Institute (NHGRI)

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2
Max Age: 90

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Homogentisic Acid;
Ochronosis;
Inborn Error of Metabolism;
Arthritis;
Enzyme Defect;
Alkaptonuria;
Homogentisic Acid Oxidase

Recruitment Keyword(s)

Alkaptonuria

Condition(s)

Alkaptonuria

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Human Genome Research Institute

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 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.

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Eligibility

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.


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Citations:

Alkaptonuric ochronosis and multiple intracranial aneurysms

Ochronotic cardiovascular disease

Ochronotic arthropathy: rapid destructive hip osteoarthritis associated with metabolic disease

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Contacts:

Principal Investigator

Referral Contact

For more information:

Wendy J. Introne, M.D.
National Human Genome Research Institute (NHGRI)
BG 10-CRC RM 3-5545
10 CENTER DR
BETHESDA MD 20814
(301) 451-8879
wi2p@nih.gov

Wendy J. Introne, M.D.
National Human Genome Research Institute (NHGRI)
BG 10-CRC RM 3-5545
10 CENTER DR
BETHESDA MD 20814
(301) 451-8879
wi2p@nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00005909

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