Gene Therapy for Retinoschisis
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial aims to test a gene therapy for individuals with X-linked juvenile retinoschisis (XLRS), a condition caused by changes in the RS1 gene that lead to vision loss. Researchers seek to determine if introducing a healthy RS1 gene into eye cells can restore normal function and improve vision. Participants will receive the gene therapy (RS1 AAV Vector) through an injection into the eye and will be monitored for safety and effectiveness. Adults with a confirmed RS1 gene mutation and significant vision impairment in one eye may be eligible to participate. As a Phase 1 trial, the research focuses on understanding how the treatment works in people, offering participants the opportunity to be among the first to receive this innovative therapy.
Do I need to stop taking my current medications for the trial?
The trial requires that you stop taking systemic carbonic anhydrase inhibitors and biologic immunosuppressive agents at least three months before starting. If you are on any medication that prevents safe administration of study drugs, you may also need to stop those. It's best to discuss your current medications with the trial team.
Is there any evidence suggesting that the AAV-RS1 vector is safe for humans?
Research has shown that the RS1 AAV vector, a gene therapy treatment, has been tested for safety in people with X-linked retinoschisis (XLRS). Studies indicate that this therapy is generally well-tolerated. In one study, the treatment was administered directly to the retina, and participants did not report any major safety issues. Another study found that the treatment was safe and well-tolerated when injected into the eye. These findings support the continued development of this gene therapy as a potential treatment for XLRS.12345
Why are researchers excited about this study treatment for retinoschisis?
Unlike the standard treatments for retinoschisis, which often involve supportive measures like monitoring or, in some cases, surgery, the RS1 AAV Vector gene therapy offers a novel approach. This treatment uses a viral vector to deliver a healthy copy of the RS1 gene directly to the eye, potentially addressing the root cause of the condition rather than just managing its symptoms. Researchers are excited because this method could lead to long-term vision improvement by directly targeting the genetic defect, offering hope for a more effective and lasting solution.
What evidence suggests that the RS1 AAV Vector might be an effective treatment for X-linked juvenile retinoschisis?
Research has shown that adding a healthy RS1 gene to eye cells might help treat X-linked juvenile retinoschisis (XLRS). Studies have found that the AAV-RS1 vector, which combines the gene with a virus, can enhance eye cell function by producing normal retinoschisin. In animal studies, this gene therapy improved the retina's structure and function. Early human trials focused on safety and suggested it might help maintain or improve vision. This trial will test different dosages of the RS1 AAV Vector to determine its effectiveness in repairing broken connections in the retina, potentially slowing or stopping vision loss.12567
Who Is on the Research Team?
Laryssa A Huryn, M.D.
Principal Investigator
National Eye Institute (NEI)
Are You a Good Fit for This Trial?
Adults over 18 with X-linked juvenile retinoschisis (XLRS), a specific eye condition, and vision of 20/63 or worse in one eye. Participants must have an RS1 gene mutation confirmed by genetic testing, be able to follow the study protocol and agree to use effective contraception.Inclusion Criteria
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Treatment
AAV-RS1 vector is injected into the study eye to introduce a healthy RS1 gene
Follow-up
Participants are monitored for safety and effectiveness after gene transfer
Long-term follow-up
Participants are monitored yearly for safety and effectiveness
What Are the Treatments Tested in This Trial?
Interventions
- RS1 AAV Vector
Trial Overview
The trial is testing the safety of a new treatment involving injecting a healthy RS1 gene into the eye using a virus vector called AAV-RS1. The goal is to see if this can help produce healthy retinoschisin protein for better retina function.
How Is the Trial Designed?
6
Treatment groups
Experimental Treatment
Not to exceed 6e11 vg/eye
3e11 vg/eye
1e11 vg/eye
1e11 vg/eye
1e10 vg/eye
1e9 vg/eye
Find a Clinic Near You
Who Is Running the Clinical Trial?
VegaVect, Inc.
Lead Sponsor
National Eye Institute (NEI)
Collaborator
Citations
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-RS1) gene augmentation therapy to the retina of participants ...
Study of RS1 Ocular Gene Transfer for X-linked Retinoschisis
Outcome Measures: The primary outcome is the safety of ocular AAV-RS1 vector as determined from assessment of retinal function, ocular structure and ...
AAV2/4-RS1 gene therapy in the retinoschisin knockout ...
AAV2/4-RS1 shows promise for improving retinal phenotype in the Rs1-KO mouse model. Subretinal delivery was superior to intravitreal. Topical brinzolamide did ...
Retinal organoids with X-linked retinoschisis RS1 (E72K ...
Data indicates that the AAV-RS1 vector can sustain the expression of RS1 for at least nine months [24,25,26]. Clinical trials were initiated ...
Long-term functional and structural outcomes in X-linked ...
Here, we report the long-term functional and structural outcomes of XLRS and the relevance of RS1 genotypes to the visual prognosis of affected individuals.
Ocular and systemic safety of a recombinant AAV8 vector ...
These studies indicate that IVT administration of AAV8-scRS/IRBPhRS is safe and well tolerated and support its advancement into a phase 1/2a clinical trial for ...
Atsena Therapeutics Announces Positive Clinical Data ...
A Phase I/II clinical trial evaluating subretinal injection of ATSN-201 for the treatment of X-linked retinoschisis (XLRS).
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