Clinical Evaluation of Patients With X-linked Retinoschisis

Brief Title

Clinical Evaluation of Patients With X-linked Retinoschisis

Official Title

Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)

Brief Summary

      The purpose of this study is to evaluate subjects with X-linked retinoschisis in a clinical
      setting to collect data on disease progression.

Detailed Description

      The objective of the study is to evaluate subjects with XLRS in a clinical setting and gather
      data on disease progression. The data from this study will enhance the understanding of the
      natural history of this rare disease and will facilitate appropriately powered safety studies
      in a future gene therapy trial in humans.

Study Type


Primary Outcome

Disease progression in subjects with XLRS

Secondary Outcome

 Disease progression using microperimetry, a non-standard of care visual function test


X-linked Retinoschisis


Dorzolamide 2% TID or brinzolamide 1% TID

Study Arms / Comparison Groups

 Main Study Group
Description:  All subjects enrolled in this study will be seen every 6 months following the screening visit. During the 3 main study visits, a series of tests will be performed to assess visual function. Some of these tests are part of routine care that patients would receive on an annual basis regardless of study participation. Other tests are being performed to determine if they are effective at monitoring disease progression in this population. For each of the 3 main study visits, testing may be spread over multiple days to ensure completion of all tests.


* 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

November 2012

Completion Date

October 2016

Primary Completion Date

October 2016

Eligibility Criteria

        Inclusion Criteria:

        Main Study:

          -  Clinical diagnosis consistent with XLRS

          -  Documented disease causing RS1 mutation

          -  7 years of age or older

          -  Able to provide informed consent/assent

          -  Male

        CAI sub-study:

        • Presence of maculoschisis

        Exclusion Criteria:

        Main Study:

        • Other eye diseases that might affect the results (e.g. history of retinal detachment,
        glaucoma, cataracts that prohibit imaging, or any other eye pathology that in the opinion
        of the investigator would preclude enrollment)

        CAI Sub-study:

        Exclusion Criteria

          -  Already being treated with CAIs

          -  Previous documented failure to respond to CAI treatment

        Any drug-specific contraindication/precaution listed below (from

        Topical Eye Drop Dorzolamide Hydrochloride


        • hypersensitivity to dorzolamide products, including sulfa allergies


          -  dorzolamide is a sulfonamide that is absorbed systemically, sulfonamide
             hypersensitivity reactions may occur

          -  angle-closure glaucoma

          -  concomitant use of oral carbonic-anhydrase inhibitors

          -  conjunctivitis and lid reactions reported with chronic administration

          -  moderate to severe renal (CrCl less than 30 mL/min) or hepatic insufficiency

          -  ocular infection or inflammation

          -  recent ocular surgery

        Topical Eye Drop Brinzolamide


        • hypersensitivity to any component of the product, including sulfa allergies


          -  concomitant use of oral carbonic anhydrase inhibitors is not recommended

          -  contact lens use; remove contact lenses prior to administration, allow 15 minutes
             before reinsertion

          -  hypersensitivity to sulfonamides; severe reaction may occur; discontinue if signs or
             symptoms appear

          -  low corneal endothelial cell counts; increased risk of corneal edema

          -  renal impairment, severe (CrCl less than 30 mL/min); use not recommended




7 Years - N/A

Accepts Healthy Volunteers



Matt Feinsod, MD, , 

Location Countries

United States

Location Countries

United States

Administrative Informations



Organization ID


Responsible Party


Study Sponsor

Applied Genetic Technologies Corp


 Foundation Fighting Blindness

Study Sponsor

Matt Feinsod, MD, Study Director, Applied Genetics Technologies Corporation

Verification Date

October 2017