Safety and Efficacy of rAAV-hRS1 in Patients With X-linked Retinoschisis (XLRS)
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 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
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.
Phase 1/Phase 2
Number of Participants Experiencing Adverse Events
Change From Baseline in Best Corrected Visual Acuity (BCVA)
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.
Primary Completion Date
Inclusion Criteria include:
1. Retinal disease consistent with a diagnosis of XLRS and documented mutations in the
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, ,
Applied Genetic Technologies Corp
Theresa Heah, MD, Study Director, Applied Genetics Technologies Corporation