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Natural History of Eye Diseases Related to ABCA4 Mutations
NCT01736293 · View on ClinicalTrials.gov ↗
Study Summary
Background: \- The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Researchers want to look at blood and skin samples from people with ABCA4 gene mutations to study related eye diseases. Objectives: \- To study eye diseases that are related to mutations in the ABCA4 gene. Eligibility: \- Individuals at least 12 years of age who have ABCA4 gene mutations. Design: * The study requires 12 visits to the National Eye Institute clinic over 10 years. In the first year, there will be three visits. After the first year, participants will have one visit a year for 9 more years. * Participants will be screened with a physical exam, full eye exam, and medical history. The eye exam will check eye pressure, light and color sensitivity, and retina function. * Participants will provide a blood sample and a skin tissue sample for study. * No treatment will be provided as part of this study.
Conditions Studied
Study Locations (1)
Maryland
- National Institutes of Health Clinical Center — Bethesda
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 68 participants |
| Start Date | 2012-10-09 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT01736293
The ClinicalTrials.gov registry entry for NCT01736293 describes a study currently listed as active not recruiting. 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 68 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 2 conditions, with Retinal Degeneration 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: NCT01736293 reports 1 study location spanning 1 distinct geographic area — top geographies include Maryland. 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 NCT01736293 about?
NCT01736293 is a clinical study titled "Natural History of Eye Diseases Related to ABCA4 Mutations". Background: \- The ABCA4 gene contains a blueprint for the ABCA4 protein. When this protein is absent or faulty (such as in Stargardt s disease), waste material from dead cells collects in the eye. The waste material may cause other cells in the eye to die. This can lead to the loss of vision. Rese...
What is the current status of trial NCT01736293?
This trial is currently active not recruiting. The enrollment target is 68 participants. The study started on 2012-10-09.
What conditions does trial NCT01736293 study?
This clinical trial studies the following conditions: Retinal Degeneration, ABCA4-Related Retinopathies. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
Who is sponsoring clinical trial NCT01736293?
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 NCT01736293 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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