Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Public ClinicalTrials.gov record NCT02317887. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Official title
A Phase I/IIa Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
Background: \- X-linked juvenile retinoschisis (XLRS) is caused by changes in the RS1 gene. These changes cause abnormal function of the eye protein retinoschisin. Without normal retinoschisin, the layers of the retina split and vision is lost. Researchers want to try to introduce a healthy RS1 gene into eye cells, to see if this helps retinal cells make healthy retinoschisin. They will put the gene in a virus. The gene and virus package is known as a gene transfer vector (AAV-RS1 vector). Objectives: \- To see if the AAV-RS1 vector is safe to use in patients with X-linked retinoschisis. Eligibility: \- Adults 18 and older with a mutation of the RS1 gene, 20/63 vision or worse in one eye, and XLRS. Design: * Participants will be screened with genetic tests to confirm XLRS. They will have a medical history and physical and eye exams. * At visits 1-2, participants will have some or all of the following: * Medical history * Physical exam * Blood and urine tests * Tuberculosis skin test * Eye exam * Vision tests (for one test an intravenous line will be placed in the arm. A dye will be injected that will travel to the blood vessels in the eye). * At visit 3, the AAV-RS1 vector will be injected with a needle in the study eye. Participants pupils will be dilated. They will get numbing eye drops. * Visits 4-13 will occur in the 18 months after gene transfer. Many of the above tests will be repeated. Participants will discuss any side effects. * Visits 14-17 will occur yearly between years 2 and 5. * After year 5, participants will be contacted yearly by phone for up to 15 years.
Study identification
- NCT ID
- NCT02317887
- Recruitment status
- Completed
- Study type
- Interventional
- Phase
- Phase 1, Phase 2
- Enrollment
- 12 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- 18 Years and older
- Sex
- Male
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Feb 10, 2015
- Primary completion
- Apr 24, 2024
- Completion
- Oct 15, 2024
- Last update posted
- Feb 13, 2025
2015 – 2024
United States locations
- U.S. sites
- 1
- U.S. states
- 1
- U.S. cities
- 1
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| National Institutes of Health Clinical Center | Bethesda | Maryland | 20892 | — |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT02317887, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Feb 13, 2025 · Synced Sep 5, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT02317887 live on ClinicalTrials.gov.