for males ages 6 years and up (full criteria)
at San Francisco, California and other locations
study started
estimated completion
Principal Investigator
by Jay Stewart
Headshot of Jay Stewart
Jay Stewart



This study will evaluate the safety and efficacy of a recombinant adeno-associated virus vector expressing retinoschisin (rAAV2tYF-CB-hRS1) in patients with X-linked retinoschisis. Up to 27 participants will be enrolled and 3 dose levels will be evaluated in a dose escalation format.

Official Title

A Multiple-Site, Phase 1/2, Safety and Efficacy Trial of a Recombinant Adeno-associated Virus Vector Expressing Retinoschisin (rAAV2tYF-CB-hRS1) in Patients With X-linked Retinoschisis


This will be a non-randomized, open label, Phase 1/2 dose escalation study.

Up to 27 participants will be enrolled. Each participant will receive the study agent by intravitreal injection in one eye on a single occasion. Enrollment will begin with the lowest dose and will proceed to higher doses only after review of safety data by a Data and Safety Monitoring Committee (DSMC). Participants in the dose escalation phase will be ≥ 18 years of age. After the maximum tolerated dose is identified individuals ≥ 6 years of age will be enrolled.

Safety will be measured by the number and proportion of participants experiencing adverse events and immune response to RS1. Efficacy will be measured by evaluation of changes in visual function and schisis cavity size.


X-linked Retinoschisis, XLRS, maculoschisis, retinal degeneration, RS1, adeno-associated virus, gene therapy, AAV, Retinoschisis, rAAV2tYF-CB-hRS1


You can join if…

Open to males ages 6 years and up


1. Retinal disease consistent with a diagnosis of XLRS and documented mutations in the RS1 gene 2. Male individual at least 18 years of age (dose escalation phase) or at least 6 years of age (maximum tolerated dose phase), 3. Able to perform tests of visual and retinal function, 4. Visual acuity specified for each group 5. Not treated with CAIs currently or within 3 months prior to study enrollment, 6. Have acceptable laboratory parameters.

You CAN'T join if...


1. Prior receipt of any AAV gene therapy product, 2. Pre-existing eye conditions that would preclude the planned intravitreal injection or interfere with interpretation of study endpoints or complications of vector administration.


  • University of California San Francisco, Dept. of Ophthalmology
    San Francisco California 94143 United States
  • Casey Eye Institute, Oregon Health and Sciences University
    Portland Oregon 97239 United States

Lead Scientist at UCSF

  • Jay Stewart
    Professor, Ophthalmology, School of Medicine. Authored (or co-authored) 148 research publications


in progress, not accepting new patients
Start Date
Completion Date
Applied Genetic Technologies Corp
AGTC website
Phase 1/2 X-Linked Retinoschisis Research Study
Study Type
About 27 people participating
Last Updated