Principal Investigator: Paul Bernstein
Keywords: Retinal eye disease , Genetics , Disease progression Department: Ophthalmology-Services
IRB Number: 00098500
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Active, not recruiting

Contact Information

Kelliann Farnsworth
kelliann.ordonez@hsc.utah.edu
801-585-6647

Simple Summary

The study will evaluate patients over time in order to study the rate of progression of choroideremia (as measured by several visual function tests and anatomical biomarkers) and determine the usefulness of specific measures for future clinical trials.

Inclusion Criteria

All subjects:

  • Male gender

  • Must have CLIA-certified molecular diagnosis of disease causing mutation in the REP-1 gene and clinical diagnosis of symptomatic choroideremia (CHM)

Primary Cohort:

  • Age > 14 years

  • CHM patients with either an affected eye that has advanced (type 1) or intermediate (type 2) disease will be enrolled.  Both eyes will be followed in this study.

Specific disease stage inclusion criteria:

  • Type 1 Advanced CHM (worse eye) criteria:

    • Visual field in the worse eye must be less than 30 degrees (Goldman III spot size or equivalent)

    • Visual acuity in the worse eye must be 20/200 or better

    • Presence of preserved paracentral foveal (within the central 10 degree) ellipsoid zone and outer nuclear layer on SD-OCT (Spectral Domain Optical Coherennce Tomography) macular testing

~ or ~

  • Type 2 Intermediate CHM (worse eye) criteria:

    • Visual field in the worse eye must be 30 degrees or greater (Goldman III spot size or equivalent)

    • Visual acuity in the worse eye must be 20/200 or better

    • Presence of preserved paracentral foveal (within the central 10 degee) ellipsoid zone and outer nuclear layer on SD-OCT macular testing.

Expansion Cohort:

  • Age > 18 years

  • Specific disease stage inclusion criteria (both eyes will be followed and must meet all of the below):

    • Visual acuity of 20/200 (34 ETDRS letters) or better in both eyes

    • Presence of measurable paracentral foveal EZ on SD-OCT macular imaging in both eyes

    • Presence of FAF abnormalities within the 50o field (preserved autogluorescence area may not extend beyond a 55o captured area)

    • Visual field in each eye:  Central visual island measured by static perimetry must consist of a minimum one non-zero point within 15o radius from fixation (30o diameter) using a Goldmann III spot size or equivalent.  Area between 15-45o radius (30-90o diameter) must have at least 3 non-zero points.  Peripheral islands of vision beyond 45o radius (90o diameter) are allowed

    • Both eyes amenable to intravitreal injection

Exclusion Criteria

Primary and Expansion Cohort:
  • Unable or unwilling to meet requirements of the study;
  • Received an ocular or non-ocular investigational drug, agent, device or therapy in the past six months;
  • Prior therapy with an adeno associated vector-based treatment
  • Concurrently receiving any interventional treatment in an interventional clinical study;
  • Pre-existing eye conditions that would: (1) preclude future planned treatment in a therapeutic intent clinical trial (i.e. intravitreal injection), (2) interfere with the interpretation of study endpoints, and/ or put patient at risk for surgical complications
  • Contraindication to oral prednisone, or use of topical corticosteroids; or presence of condition that may preclude the use of corticosteroids or immunosuppressive agents
  • Complicating systemic diseases that would preclude future enrollment in a therapeutic intent clinical trial
  • Cataract surgery, vitrectomy, intraocular and/or peri-ocular injection in the study eyes within the prior six months
  • Any other condition that would not allow the potential subject to complete follow-up examinations during the course of the study and, in the opinion of the investigator, makes the potential subject unsuitable for the study.
 
Note: The presence of macular edema due to CHM will not be considered an exclusion criterion.

 

Participant Reimbursement

Participants will be paid $50/visit to complete 5 visits for a total maximum of $250 over a 4 year period