X-linked RetinoschisisNCT02331173
Clinical Evaluation of Patients With X-linked Retinoschisis
An observational study of X-linked Retinoschisis and XLRS, run by Beacon Therapeutics at 3 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 7 years and older, men only
- Conditions the study is for
- X-linked Retinoschisis, XLRS
- What is being tested?
- Dorzolamide 2% TID or brinzolamide 1% TID
- How many people
- 66 participants
- Where
- 3 sitesUnited States
- Study dates
- Nov 2012to Oct 2016
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 7 years and older
- Men only
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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):
Show all 26Show fewer
- 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
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of Michigan Kellogg Eye Center
Ann Arbor, Michigan, 48105
Retina Foundation of the Southwest
Dallas, Texas, 75231
Casey Eye Institute, Oregon Health and Sciences University
Portland, Oregon, 97239
About this study
Official title: Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)
The purpose of this study is to evaluate subjects with X-linked retinoschisis in a clinical setting to collect data on disease progression.
Read the 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.
- Conditions
- X-linked Retinoschisis, XLRS
- Being tested
- Dorzolamide 2% TID or brinzolamide 1% TID
- Keywords
- XLRS, RS1, maculoschisis
- Medical subject headings
- Retinoschisis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
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
| Study group | Role | What they receive |
|---|---|---|
| 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). Receives: Drug: Dorzolamide 2% TID or brinzolamide 1% TID |
What is being measured
The primary outcome is the main question the study is designed to answer.
Disease progression in subjects with XLRS
Measured: Every 6 months for 18 months
Secondary outcomes (7)
Disease progression using microperimetry, a non-standard of care visual function test
Measured: Every 6 months for 18 months
Disease progression using electroretinograms (ERGs), a non-standard of care visual function test
Measured: Every 6 months for 18 months
Disease progression using the reading speed test, a non-standard of care visual function test
Measured: Every 6 months for 18 months
Disease progression using the contrast sensitivity test, a non-standard of care visual function test
Measured: Every 6 months for 18 months
Disease progression using a quality of life questionnaire
Measured: Every 6 months for 18 months
Change in maculoschisis while receiving carbonic anhydrase inhibitors
Measured: All study visits, Months 1, 3, 6, 12, and 18
Change in visual function while receiving carbonic anhydrase inhibitors
Measured: All study visits, Months 1, 3, 6, 12, and 18
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted6 Jan 2015 (estimated)
- Study startNov 2012
- Primary completionOct 2016
- Study completionOct 2016
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for X-linked RetinoschisisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 66 participants (actual)
Sponsor and investigators
- Lead sponsor
- Beacon Therapeutics
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Foundation Fighting Blindness
- Responsible party
- Sponsor
- Investigators
- Matt Feinsod, MD, Study director, Applied Genetics Technologies Corporation
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02331173
- Sponsor's protocol ID
- XLRS-001
- Status last verified
- Oct 2017
- First submitted
- 8 Dec 2014
- Last updated
- 17 Nov 2017
- Results posted
- No
- Data monitoring committee
- No
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.
PubMed 30551202
Study at a glance
From the registry record, last updated by the sponsor on 17 Nov 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical Evaluation of Patients With X-linked Retinoschisis (XLRS)
- ClinicalTrials.gov ID
- NCT02331173
- Acronym / sponsor ID
- XLRS-001
- Conditions
- X-linked Retinoschisis, XLRS
- Keywords
- XLRS, RS1, maculoschisis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 66 participants (actual)
- Lead sponsor
- Beacon TherapeuticsIndustry (pharma, biotech, devices)
- Collaborators
- Foundation Fighting Blindness
- Study start
- Nov 2012
- Primary completion
- Oct 2016 (actual)
- Study completion
- Oct 2016 (actual)
- First posted
- 6 Jan 2015 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| 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 | – | Drug: Dorzolamide 2% TID or brinzolamide 1% TIDSubjects 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). |
Who may qualify
- Ages
- 7 years and older
- Sex
- Male only
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (8 listed)
- Clinical diagnosis consistent with XLRS
- Documented disease causing RS1 mutation
- 7 years of age or older
- Able to provide informed consent/assent
- Male
Key exclusion criteria (26 listed)
- 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)
- Already being treated with CAIs
- Previous documented failure to respond to CAI treatment
- Topical Eye Drop Dorzolamide Hydrochloride
- hypersensitivity to dorzolamide products, including sulfa allergies
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Dorzolamide 2% TID or brinzolamide 1% TIDDosing 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 | Drug | Carbonic anhydrase inhibitor sub-study |
Primary outcome
Disease progression in subjects with XLRS
Time frame: Every 6 months for 18 months
7 secondary outcomes
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Nov 2017.
- Derived from this study: PubMed 30551202Pennesi 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.
Related trials for X-linked Retinoschisis
Active, not recruitingEarly Phase 1
Safety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis
Retinoschisis, Retinal Disease
RecruitingPhase 3
ATSN-201 Gene Therapy in RS1-Associated X-linked Retinoschisis
X-linked Retinoschisis
RecruitingObservational study
Inherited Retinal Degenerative Disease Registry
Eye Diseases Hereditary, Retinal Disease
RecruitingObservational study
Development and Evaluation of Functional Visual Field and Navigation Endpoints in Moderate to Profound Inherited Retinal Disease (DEFINE-IRD)
Retinitis Pigmentosa, Stargardt Macular Dystrophy
RecruitingEarly Phase 1
Safety and Efficacy of a Single Subretinal Injection of JWK002 Gene Therapy in Subjects With X-linked Retinoschisis(XLRS)
X Linked Retinoschisis
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Matt Feinsod, MD study director
Applied Genetics Technologies Corporation
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of X-linked Retinoschisis and XLRS, run by Beacon Therapeutics at 3 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 26 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 17 Nov 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Disease progression in subjects with XLRS (time frame: Every 6 months for 18 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT02331173, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Nov 2017.