Clinical Evaluation of Patients With X-linked Retinoschisis

Beacon Therapeutics66 enrolled

Overview

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

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

OBSERVATIONAL

Enrollment

Conditions

X-linked Retinoschisis XLRS

Interventions

Dorzolamide 2% TID or brinzolamide 1% TIDDRUG

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: * Topical dorzolamide 2% three times per day * Topical brinzolamide 1% three times per day

Eligibility

Sex: MALEMin age: 7 Years

Medical Language ↔ Plain English

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

Locations (3)

University of Michigan Kellogg Eye Center

Ann Arbor, Michigan, United States

Casey Eye Institute, Oregon Health and Sciences University

Portland, Oregon, United States

Retina Foundation of the Southwest

Dallas, Texas, United States