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Clinical Evaluation of Patients With X-linked Retinoschisis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02331173
Recruitment Status : Completed
First Posted : January 6, 2015
Last Update Posted : November 17, 2017
Sponsor:
Collaborator:
Foundation Fighting Blindness
Information provided by (Responsible Party):
Applied Genetic Technologies Corp

Tracking Information
First Submitted Date December 8, 2014
First Posted Date January 6, 2015
Last Update Posted Date November 17, 2017
Study Start Date November 2012
Actual Primary Completion Date October 2016   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: January 2, 2015)
Disease progression in subjects with XLRS [ Time Frame: Every 6 months for 18 months ]
Original Primary Outcome Measures Same as current
Change History Complete list of historical versions of study NCT02331173 on ClinicalTrials.gov Archive Site
Current Secondary Outcome Measures
 (submitted: January 2, 2015)
  • Disease progression using microperimetry, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
  • Disease progression using electroretinograms (ERGs), a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
  • Disease progression using the reading speed test, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
  • Disease progression using the contrast sensitivity test, a non-standard of care visual function test [ Time Frame: Every 6 months for 18 months ]
  • Disease progression using a quality of life questionnaire [ Time Frame: Every 6 months for 18 months ]
  • Change in maculoschisis while receiving carbonic anhydrase inhibitors [ Time Frame: All study visits, Months 1, 3, 6, 12, and 18 ]
  • Change in visual function while receiving carbonic anhydrase inhibitors [ Time Frame: All study visits, Months 1, 3, 6, 12, and 18 ]
Original Secondary Outcome Measures Same as current
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Clinical Evaluation of Patients With X-linked Retinoschisis
Official Title Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)
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.
Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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.
Condition
  • 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
Study Groups/Cohorts
  • 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).
    Intervention: Drug: Dorzolamide 2% TID or brinzolamide 1% TID
Publications * 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.

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Completed
Actual Enrollment
 (submitted: January 23, 2017)
66
Original Estimated Enrollment
 (submitted: January 2, 2015)
45
Actual Study Completion Date October 2016
Actual Primary Completion Date October 2016   (Final data collection date for primary outcome measure)
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
Sex/Gender
Sexes Eligible for Study: Male
Ages 7 Years and older   (Child, Adult, Older Adult)
Accepts Healthy Volunteers No
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries United States
Removed Location Countries  
 
Administrative Information
NCT Number NCT02331173
Other Study ID Numbers XLRS-001
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement Not Provided
Responsible Party Applied Genetic Technologies Corp
Study Sponsor Applied Genetic Technologies Corp
Collaborators Foundation Fighting Blindness
Investigators
Study Director: Matt Feinsod, MD Applied Genetics Technologies Corporation
PRS Account Applied Genetic Technologies Corp
Verification Date October 2017