Clinical Evaluation of Patients With X-linked Retinoschisis

NCT02331173 | Completed

• 1 other identifier: XLRS-001
• Study Type: observational
• Target: 66
• Locations: 1 country
• Sites: 3

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.

Conditions

X-linked Retinoschisis; XLRS

Keywords

XLRS; RS1; maculoschisis

Outcome Measures

Primary Outcomes (1)

• Disease progression in subjects with XLRS

  Every 6 months for 18 months

Secondary Outcomes (7)

• Disease progression using microperimetry, a non-standard of care visual function test

  Every 6 months for 18 months

• 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 a quality of life questionnaire

  Every 6 months for 18 months

Study Arms (2)

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.

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).

Drug: Dorzolamide 2% TID or brinzolamide 1% TID

Interventions

Dorzolamide 2% TID or brinzolamide 1% TID DRUG

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

Carbonic anhydrase inhibitor sub-study

Eligibility Criteria

• Age: 7 Years+
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• Main Study:
• Clinical diagnosis consistent with XLRS
• Documented disease causing RS1 mutation
• years of age or older
• Able to provide informed consent/assent
• Male
• CAI sub-study:
• Presence of maculoschisis

You may not qualify if:

• 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:
• 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

Sponsors & Collaborators

• Beacon Therapeutics: lead
• Foundation Fighting Blindness: collaborator

Study Sites (3)

University of Michigan Kellogg Eye Center

Ann Arbor, Michigan, 48105, United States

Location

Casey Eye Institute, Oregon Health and Sciences University

Portland, Oregon, 97239, United States

Location

Retina Foundation of the Southwest

Dallas, Texas, 75231, United States

Location

Related Publications (1)

• 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.

  PMID: 30551202 DERIVED

MeSH Terms

Conditions

Retinoschisis

Interventions

dorzolamide; brinzolamide

Condition Hierarchy (Ancestors)

Retinal Degeneration; Retinal Diseases; Eye Diseases

Study Officials

• Matt Feinsod, MD

  Applied Genetics Technologies Corporation

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: December 8, 2014
• First Posted: January 6, 2015
• Study Start: November 1, 2012
• Primary Completion: October 1, 2016
• Study Completion: October 1, 2016
• Last Updated: November 17, 2017

Record last verified: 2017-10

Locations

US (3)