Clinical Evaluation of Patients With X-linked Retinoschisis
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ClinicalTrials.gov Identifier: NCT02331173 |
Recruitment Status :
Completed
First Posted : January 6, 2015
Last Update Posted : November 17, 2017
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Condition or disease | Intervention/treatment |
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X-linked Retinoschisis XLRS | Drug: Dorzolamide 2% TID or brinzolamide 1% TID |
Study Type : | Observational |
Actual Enrollment : | 66 participants |
Observational Model: | Cohort |
Time Perspective: | Prospective |
Official Title: | Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS) |
Study Start Date : | November 2012 |
Actual Primary Completion Date : | October 2016 |
Actual Study Completion Date : | October 2016 |

Group/Cohort | Intervention/treatment |
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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.
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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).
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Drug: Dorzolamide 2% TID or brinzolamide 1% TID
Dosing of all medications will be based upon standard of care. Standard dosing for the treatment of pediatric and adult patients with XLRS is as follows:
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- Disease progression in subjects with XLRS [ Time Frame: Every 6 months for 18 months ]
- Disease progression using microperimetry, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
- Disease progression using electroretinograms (ERGs), a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
- Disease progression using the reading speed test, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
- Disease progression using the contrast sensitivity test, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
- Disease progression using a quality of life questionnaire [ Time Frame: Every 6 months for 18 months ]
- Change in maculoschisis while receiving carbonic anhydrase inhibitors [ Time Frame: All study visits, Months 1, 3, 6, 12, and 18 ]
- Change in visual function while receiving carbonic anhydrase inhibitors [ Time Frame: All study visits, Months 1, 3, 6, 12, and 18 ]

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 7 Years and older (Child, Adult, Older Adult) |
Sexes Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Sampling Method: | Probability Sample |
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

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02331173
United States, Michigan | |
University of Michigan Kellogg Eye Center | |
Ann Arbor, Michigan, United States, 48105 | |
United States, Oregon | |
Casey Eye Institute, Oregon Health and Sciences University | |
Portland, Oregon, United States, 97239 | |
United States, Texas | |
Retina Foundation of the Southwest | |
Dallas, Texas, United States, 75231 |
Study Director: | Matt Feinsod, MD | Applied Genetics Technologies Corporation |
Responsible Party: | Applied Genetic Technologies Corp |
ClinicalTrials.gov Identifier: | NCT02331173 |
Other Study ID Numbers: |
XLRS-001 |
First Posted: | January 6, 2015 Key Record Dates |
Last Update Posted: | November 17, 2017 |
Last Verified: | October 2017 |
XLRS RS1 maculoschisis |
Retinoschisis Retinal Degeneration Retinal Diseases Eye Diseases Dorzolamide |
Brinzolamide Carbonic Anhydrase Inhibitors Enzyme Inhibitors Molecular Mechanisms of Pharmacological Action Antihypertensive Agents |