X-linked Retinoschisis, XLRS
Conditions
Keywords
XLRS, RS1, maculoschisis
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.
Interventions
DRUGDorzolamide 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: * Topical dorzolamide 2% three times per day * Topical brinzolamide 1% three times per day
Sponsors
Foundation Fighting Blindness
Beacon Therapeutics
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
MALE
Age
7 Years to No maximum
Healthy volunteers
No
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:
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Disease progression in subjects with XLRS | Every 6 months for 18 months |
Secondary
| Measure | Time frame |
|---|---|
| Disease progression using electroretinograms (ERGs), a non-standard of care visual function test | Every 6 months for 18 months |
| Disease progression using the reading speed test, a non-standard of care visual function test | Every 6 months for 18 months |
| Disease progression using the contrast sensitivity test, a non-standard of care visual function test | Every 6 months for 18 months |
| Disease progression using microperimetry, a non-standard of care visual function test | Every 6 months for 18 months |
| Change in maculoschisis while receiving carbonic anhydrase inhibitors | All study visits, Months 1, 3, 6, 12, and 18 |
| Change in visual function while receiving carbonic anhydrase inhibitors | All study visits, Months 1, 3, 6, 12, and 18 |
| Disease progression using a quality of life questionnaire | Every 6 months for 18 months |
Countries
United States
Outcome results
None listed