Clinical Evaluation of Patients With X-linked Retinoschisis

Applied Genetic Technologies (AGTC)

Status: Completed

Conditions: X-linked Retinoschisis; XLRS

Treatments: Drug: Dorzolamide 2% TID or brinzolamide 1% TID

Study type: Observational

Funder types: Other

Identifiers

NCT02331173

XLRS-001

Details and patient eligibility

About

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

Full 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.

Enrollment: 66 patients

Sex: Male

Ages: 7+ years old

Volunteers: No Healthy Volunteers

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

Trial design

66 participants in 2 patient 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.

Carbonic anhydrase inhibitor sub-study

Description:

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).

Treatment:

Drug: Dorzolamide 2% TID or brinzolamide 1% TID