Clinical trial NCT02331173: Clinical Evaluation of Patients With X-linked Retinoschisis
Official title: Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: X-linked Retinoschisis
XLRS
Keywords: XLRS
RS1
maculoschisis
Lead sponsor: Beacon Therapeutics
Sponsor class: INDUSTRY
Collaborators: name: Foundation Fighting Blindness
First posted: 2015-01-06
Enrollment: 66
Sex: MALE
Minimum age (years): 7
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Potential subjects will be identified from the Oregon Retinal Degeneration Center (ORDC) database and the Retina and Ophthalmic practices at Oregon Health and Science University Casey Eye Institute, Retina Foundation of the Southwest and Kellogg Eye Center.

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.

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

Primary outcomes:
measure: Disease progression in subjects with XLRS
timeFrame: Every 6 months for 18 months
Secondary outcomes:
measure: Disease progression using microperimetry, a non-standard of care visual function test
timeFrame: Every 6 months for 18 months
measure: Disease progression using electroretinograms (ERGs), a non-standard of care visual function test
timeFrame: Every 6 months for 18 months
measure: Disease progression using the reading speed test, a non-standard of care visual function test
timeFrame: Every 6 months for 18 months
measure: Disease progression using the contrast sensitivity test, a non-standard of care visual function test
timeFrame: Every 6 months for 18 months
measure: Disease progression using a quality of life questionnaire
timeFrame: Every 6 months for 18 months
measure: Change in maculoschisis while receiving carbonic anhydrase inhibitors
timeFrame: All study visits, Months 1, 3, 6, 12, and 18
measure: Change in visual function while receiving carbonic anhydrase inhibitors
timeFrame: All study visits, Months 1, 3, 6, 12, and 18
Other outcomes:
Locations:
city: Ann Arbor
country: United States
facility: University of Michigan Kellogg Eye Center
state: Michigan
city: Portland
country: United States
facility: Casey Eye Institute, Oregon Health and Sciences University
state: Oregon
city: Dallas
country: United States
facility: Retina Foundation of the Southwest
state: Texas
Study officials:
affiliation: Applied Genetics Technologies Corporation
name: Matt Feinsod, MD
role: STUDY_DIRECTOR
References:
citation: Pennesi ME, Birch DG, Jayasundera KT, Parker M, Tan O, Gurses-Ozden R, Reichley C, Beasley KN, Yang P, Weleber RG, Bennett LD, Heckenlively JR, Kothapalli K, Chulay JD, For The Xlrs-Study Group. Prospective Evaluation of Patients With X-Linked Retinoschisis During 18 Months. Invest Ophthalmol Vis Sci. 2018 Dec 3;59(15):5941-5956. doi: 10.1167/iovs.18-24565.