Clinical Evaluation of Patients With X-linked Retinoschisis

X-linked Retinoschisis Clinical Trial

Official title:

Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT02331173
• Other study ID #: XLRS-001
• Status: Completed
• Phase: N/A
• First received: December 8, 2014
• Last updated: November 15, 2017
• Start date: November 2012
• Est. completion date: October 2016

Study information

• Verified date: October 2017
• Source: Applied Genetic Technologies Corp
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 66
• Est. completion date: October 2016
• Est. primary completion date: October 2016
• Accepts healthy volunteers: No
• Gender: Male
• Age group: 7 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Retinoschisis
• X-linked Retinoschisis
• XLRS

Intervention

Drug:
• Dorzolamide 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

Locations

Country	Name	City	State
United States	University of Michigan Kellogg Eye Center	Ann Arbor	Michigan
United States	Retina Foundation of the Southwest	Dallas	Texas
United States	Casey Eye Institute, Oregon Health and Sciences University	Portland	Oregon

Sponsors (2)

Lead Sponsor	Collaborator
Applied Genetic Technologies Corp	Foundation Fighting Blindness

Country where clinical trial is conducted

United States, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Disease progression in subjects with XLRS		Every 6 months for 18 months
Secondary	Disease progression using microperimetry, a non-standard of care visual function test		Every 6 months for 18 months
Secondary	Disease progression using electroretinograms (ERGs), a non-standard of care visual function test		Every 6 months for 18 months
Secondary	Disease progression using the reading speed test, a non-standard of care visual function test		Every 6 months for 18 months
Secondary	Disease progression using the contrast sensitivity test, a non-standard of care visual function test		Every 6 months for 18 months
Secondary	Disease progression using a quality of life questionnaire		Every 6 months for 18 months
Secondary	Change in maculoschisis while receiving carbonic anhydrase inhibitors		All study visits, Months 1, 3, 6, 12, and 18
Secondary	Change in visual function while receiving carbonic anhydrase inhibitors		All study visits, Months 1, 3, 6, 12, and 18