Study of Alkaptonuria

NCT00005909 | Recruiting

• 2 other identifiers: 00014100-HG-0141
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Alkaptonuria

Keywords

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

Outcome Measures

Primary Outcomes (1)

• To delineate the clinical and laboratory findings of alkaptonuria, using state-of-the-art medical technology such as cardiac CT, MRI, and echocardiograms.

  To delineate the clinical and laboratory findings of alkaptonuria, using state-of-the-art medical technology such as cardiac CT, MRI, and echocardiograms.

  Ongoing

Secondary Outcomes (1)

• To understand the natural history and rates of progression to identify suitable outcome measures for future studies.

  Ongoing

Study Arms (1)

Alkaptonuria

Patients with confirmed or suspected alkaptonuria

Eligibility Criteria

• Age: 2 Years - 115 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed or suspected alkaptonuria@@@

You may qualify if:

• All patients entering this study will carry the diagnosis of alkaptonuria, although we will confirm this diagnosis during the admission. Alkaptonuria has been reported to occur throughout the world, with concentrations in the Dominican Republic, Slovakia, and Germany. We plan to recruit patients of all ethnic backgrounds.

You may not qualify if:

• Patients will be excluded if they cannot travel to the NIH due to their medical condition or are in imminent danger of death due to, e.g., cardiac involvement. Children under two years of age are excluded because they are virtually never affected with the symptoms of this disorder, and their investigations can be delayed.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Alkaptonuria; Ochronosis; Metabolism, Inborn Errors; Arthritis

Condition Hierarchy (Ancestors)

Amino Acid Metabolism, Inborn Errors; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Metabolic Diseases; Nutritional and Metabolic Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Joint Diseases; Musculoskeletal Diseases

Study Officials

• Wendy J Introne, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Wendy J Introne, M.D.

CONTACT

(301) 451-8879; wi2p@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 13, 2000
• First Posted: June 14, 2000
• Study Start: June 21, 2000
• Last Updated: April 30, 2026

Record last verified: 2026-04-28

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL
• Time Frame: While the study is open.
• Access Criteria: All data sharing will be approved by the NHGRI Tech Transfer Office.

Locations

US (1)