Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)

Brief Title

Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)

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

Brief Summary

      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.

Detailed Description

      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

      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.

Study Phase

Phase 1/Phase 2

Study Type


Primary Outcome

Number of Participants Experiencing Adverse Events

Secondary Outcome

 Change From Baseline in Best Corrected Visual Acuity (BCVA)


X-linked Retinoschisis



Study Arms / Comparison Groups

 Groups 1A and 1B
Description:  Subjects at least 18 y/o treated with a lower dose of rAAV2tYF-CB-hRS1 study drug.


* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information

Recruitment Status


Estimated Enrollment


Start Date

May 2015

Completion Date

October 2023

Primary Completion Date

April 2019

Eligibility Criteria

        Inclusion Criteria include:

          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.

        Exclusion Criteria include:

          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




6 Years - N/A

Accepts Healthy Volunteers



Theresa Heah, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Applied Genetic Technologies Corp

Study Sponsor

Theresa Heah, MD, Study Director, Applied Genetics Technologies Corporation

Verification Date

July 2022