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

Descriptive Information
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 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.
Study Phase Phase 1/Phase 2
Study Type † Interventional
Study Design †
Primary Outcome Measure † Number of participants experiencing adverse events
Secondary Outcome Measure † Changes in visual acuity
Condition † X-linked Retinoschisis
Intervention † BiologicalrAAV2tYF-CB-hRS1
Study Arms / Comparison Groups Groups 1A and 1B Subjects at least 18 y/o treated with a lower dose of rAAV2tYF-CB-hRS1 study drug. Group 2 Subjects at least 18 y/o treated with a middle dose of rAAV2tYF-CB-hRS1 study drug. Group 3 Subjects at least 18 y/o treated with a higher dose of rAAV2tYF-CB-hRS1 study drug. Group 4 Subjects at least 6 y/o treated with a maximum tolerated dose of rAAV2tYF-CB-hRS1 study drug determined for Groups 1A, 1B, 2 and 3.
Publications *

* 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 † Biological
Estimated Enrollment † 27
Start Date † May 2015
Completion Date December 2020
Primary Completion Date December 2017
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 administration.
Gender Male
Ages 6 Years - N/A
Accepts Healthy Volunteers No
Contacts †† Jill Dolgin, PharmD, 617-843-5781,
Location Countries † United States
Administrative Information
NCT ID † NCT02416622
Organization ID AGTC-RS1-001
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Applied Genetic Technologies Corp
Collaborators ††
Investigators † Study Director: Mike Goldstein, MD, Applied Genetics Technologies Corporation
Information Provided By
Verification Date March 2017
First Received Date † April 2, 2015
Last Updated Date March 7, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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