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Clinical Evaluation of Patients With X-linked Retinoschisis

Descriptive Information
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 Phase N/A
Study Type † Observational
Study Design †
Primary Outcome Measure † Disease progression in subjects with XLRS
Secondary Outcome Measure † Disease progression using microperimetry, a non-standard of care visual function test
Condition † X-linked Retinoschisis XLRS
Intervention † DrugDorzolamide 2% TID or brinzolamide 1% TID
Study Arms / Comparison Groups Main Study Group 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. Carbonic anhydrase inhibitor sub-study Subjects with maculoschisis may be offered topical treatment with CAIs. These subjects will be asked to visit the study site at 1 month and 3 months after starting topical treatment. During these additional visits, subjects will undergo a dilated eye exam, BCVA, and SD-OCT imaging to assess efficacy of treatment (i.e. reduction of maculoschisis).
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 † Drug
Estimated Enrollment † 66
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 www.micromedex.com): Topical Eye Drop Dorzolamide Hydrochloride Contraindications: • hypersensitivity to dorzolamide products, including sulfa allergies Precautions: - 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 Contraindications: • hypersensitivity to any component of the product, including sulfa allergies Precautions: - 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
Gender Male
Ages 7 Years - N/A
Accepts Healthy Volunteers No
Contacts ††
Location Countries † United States
Administrative Information
NCT ID † NCT02331173
Organization ID XLRS-001
Secondary IDs ††
Responsible Party Sponsor
Study Sponsor † Applied Genetic Technologies Corp
Collaborators †† Foundation Fighting Blindness
Investigators † Study Director: Mike Goldstein, MD, Applied Genetics Technologies Corporation
Information Provided By
Verification Date March 2017
First Received Date † December 8, 2014
Last Updated Date March 10, 2017
† Required WHO trial registration data element.
†† WHO trial registration data element that is required only if it exists.
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