Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis (NCT02317887) | Clinical Trial Compass
CompletedPhase 1/2
Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
United States12 participantsStarted 2015-02-11
Plain-language summary
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.
Who can participate
Age range
18 Years
Sex
MALE
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
INCLUSION CRITERIA:
* Participant is male with a mutation in the RS1 gene identified by genotyping.
* Participant must be 18 years of age or older.
* Participant must be able to understand and sign the informed consent.
* Participant must be medically able to comply with the study treatment, study testing and procedures and follow-up visits.
* Participant has at least one eye that meets the study eye criteria listed below.
* Participant must agree to use effective barrier (male or female condom) of contraception starting two weeks before and continuing one year after gene transfer.
* If the participant's partner is able to become pregnant, a second form of effective contraception will be required starting two weeks before and continuing one year after gene transfer.
Effective methods of contraception for this study include:
* hormonal contraception (birth control pills, injected hormones or vaginal ring),
* intrauterine device,
* barrier methods (condom or diaphragm) combined with spermicide,
* surgical sterilization (hysterectomy or tubal ligation in partner or vasectomy).
EXCLUSION CRITERIA:
* Participant is actively receiving another study medication/investigational product (IP).
* Participant has previously enrolled in another gene therapy trial.
* Participant is currently taking, or has taken in the last three months, a systemic carbonic anhydrase inhibitor prior to enrollment/baseline 1 testing.
* Participant has any condition that significantly increases risk of s…
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Adverse Events (AEs) Affecting Ocular Function That Differ Clinically From Those Expected in the Normal Course of Progression of XLRS