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Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia
NCT00265590 · View on ClinicalTrials.gov ↗
Study Summary
This study will examine specific gene changes in patients with aniridia, a disease in which the iris (colored part of the eye) is absent or partially absent, and will correlate the changes with clinical manifestations of the disease. In aniridia, the eye often appears to have no color, but only a larger than normal pupil. Patients may have impaired vision and cataracts, glaucoma, nystagmus (rapid, involuntary eye movements), photophobia (light sensitivity), displaced lens, underdeveloped retina, and thickened cornea. This study will focus particularly on corneal changes. Patients 4 years old and older with aniridia may be eligible for this study. Candidates are screened with a family history and complete eye examination, including the following: * Visual acuity testing using a vision chart. * Eye pressure measurement. * Fundus photography to examine the back of the eye: The pupils are dilated and special photographs of the inside of the eye are taken to evaluate the retina and measure changes that may occur over time. The camera flashes a bright light into the eye for each picture. * Slit lamp examination: Evaluation of the front part of the eye with a special microscope called a slit lamp biomicroscope. * Corneal thickness measurement. Participants have blood drawn for genetic testing related to aniridia. Relevant medical information, including disease severity and complications, is obtained over time. Family members may also be requested to provide blood samples for genetic testing.
Conditions Studied
Study Locations (3)
Illinois
- University of Chicago — Chicago
Maryland
- National Institutes of Health Clinical Center, 9000 Rockville Pike — Bethesda
Ohio
- University of Cincinnati — Cincinnati
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 100 participants |
| Start Date | 2005-12-07 |
| Est. Completion | 2008-10-03 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT00265590
The ClinicalTrials.gov registry entry for NCT00265590 describes a study currently listed as completed. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 100 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is National Eye Institute (NEI), which has 214 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Aniridia appearing as the primary indexed condition, and to 0 interventions. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT00265590 reports 3 study locations spanning 3 distinct geographic areas — top geographies include Illinois, Maryland, Ohio. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT00265590 about?
NCT00265590 is a clinical study titled "Correlation of Gene Abnormalities and Clinical Manifestations of Aniridia". This study will examine specific gene changes in patients with aniridia, a disease in which the iris (colored part of the eye) is absent or partially absent, and will correlate the changes with clinical manifestations of the disease. In aniridia, the eye often appears to have no color, but only a la...
What is the current status of trial NCT00265590?
This trial is currently completed. The enrollment target is 100 participants. The study started on 2005-12-07. Estimated completion is 2008-10-03.
What conditions does trial NCT00265590 study?
This clinical trial studies the following conditions: Aniridia. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT00265590?
This trial is sponsored by National Eye Institute (NEI), which has 214 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT00265590 being conducted?
This trial has 3 study locations across Illinois, Maryland, Ohio. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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