Understanding alkaptonuria and collecting patient data
Clinical, Biochemical, and Molecular Investigations Into Alkaptonuria
This study is trying to gather detailed health information from people with alkaptonuria to better understand the condition and improve future treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 300 (estimated) |
| Ages | 2 Years to 115 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00005909 on ClinicalTrials.gov |
What this trial studies
This observational study aims to gather comprehensive clinical information on patients with alkaptonuria, a rare genetic disorder characterized by the accumulation of homogentisic acid. Participants, who are at least two years old, will undergo evaluations at the NIH Clinical Center every 2 to 3 years for 3 to 5 days, including medical history, physical exams, and routine blood and urine tests. The study seeks to confirm diagnoses, analyze genetic mutations, and identify clinical outcome measures that could inform future drug trials. The ultimate goal is to enhance understanding of the disease and improve prognosis and therapy options for patients.
Who should consider this trial
Good fit: Ideal candidates are patients diagnosed with alkaptonuria who are at least two years old.
Not a fit: Patients who cannot travel to the NIH due to their medical condition or are in imminent danger of death will not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to better management and treatment options for patients with alkaptonuria.
How similar studies have performed: While alkaptonuria has not been extensively studied in recent decades, the approach of gathering comprehensive clinical data has shown promise in other rare genetic disorders.
Eligibility criteria
Show full inclusion / exclusion criteria
* INCLUSION CRITERIA: 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. EXCLUSION CRITERIA: 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.
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Wendy J Introne, M.D. — National Human Genome Research Institute (NHGRI)
- Study coordinator: Wendy J Introne, M.D.
- Email: wi2p@nih.gov
- Phone: (301) 451-8879
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.