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NCT00005909 · ClinicalTrials.gov registry record
Study of Alkaptonuria
A clinical trial of Alkaptonuria, sponsored by National Human Genome Research Institute (NHGRI).
- Recruiting
- Registry status
- 300
- Enrollment target
- 1
- Study location
NCT00005909 is a study of Alkaptonuria that is actively recruiting participants, run by National Human Genome Research Institute (NHGRI). The registered enrollment target is 300 participants. The trial reports 1 study location across 1 state.
The verdict
NCT00005909, a study of Alkaptonuria, is actively recruiting participants, sponsored by National Human Genome Research Institute (NHGRI).
- RECRUITING
- Registry status
- 300 participants
- Enrollment target
- 1
- Study location
Study 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 docto
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center - Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 300 participants |
| Start Date | 2000-06-21 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00005909
The ClinicalTrials.gov registry entry for NCT00005909 describes a study currently listed as recruiting, categorized as an unspecified phase. The registered enrollment target is 300 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Human Genome Research Institute (NHGRI), which has 185 total studies on file at ClinicalTrials.gov.
The record links to 1 condition, with Alkaptonuria appearing as the primary indexed condition, and to 0 interventions.
NCT00005909 reports 1 study location spanning 1 distinct geographic area - top geographies include Maryland.
Frequently Asked Questions
What is clinical trial NCT00005909 about?
NCT00005909 is a clinical study titled "Study of Alkaptonuria". 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 a...
What is the current status of trial NCT00005909?
This trial is currently recruiting. The enrollment target is 300 participants. The study started on 2000-06-21.
What conditions does trial NCT00005909 study?
This clinical trial studies the following conditions: Alkaptonuria.
Who is sponsoring clinical trial NCT00005909?
This trial is sponsored by National Human Genome Research Institute (NHGRI), which has 185 total clinical trials registered on ClinicalTrials.gov.
Where is trial NCT00005909 being conducted?
This trial has 1 study location across Maryland. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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