XLRS Virus Vector Trial

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

MEEI Protocol ID


National Clinical Trial (NCT) Number 



X-linked Retinoschisis (XLRS)


Applied Genetic Technologies Corp (AGTC)

Principal Investigator

Jason Comander, M.D. Ph.D.

Study Design

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

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).

Study Objective

The AGTC-RS1-001 study is evaluating a gene therapy to determine how safely and effectively it reduces the symptoms of XLRS.

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.

Who is Eligible

Males ages 6 and older.

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

Subject Enrollment

Up to 27 participants will be enrolled.

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.

Study Procedures

Each participant will receive the study agent by intravitreal injection in one eye on a single occasion.

Study participation lasts 5 years and includes:

  • 1 screening visit
  • 1 baseline visit
  • 1 visit to receive study drug
  • 13 follow-up visits

These study visits may include; screening exam, general health evaluation, blood tests, eye exam, visual function tests, contrast sensitivity test, reading speed test, optical coherence tomography (OCT), fundus photography, electroretinogram (ERG), and study treatment.

For More Information

OCRO@meei.harvard.edu Ophthalmology Clinical Research Office

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