4D MT Choroideremia

Principal Investigator: Paul Bernstein
Keywords: Retinal eye disease , Genetics , Disease progression Department: Ophthalmology-Services
IRB Number: 00098500 Co Investigator:  
Specialty: Ophthalmology
Sub Specialties: Retinal Diseases
Recruitment Status: Recruiting

Contact Information

Katie  Farnsworth
katie.rogers@utah.edu
801-585-6647

Brief Summary

The study objectives are:

To evaluate the rate of progression of choroideremia (as measured by several visual function tests and anatomical biomarkers).

To determine the feasibility of measuring specific endpoints serially over time in a population of choroideremia patients.

Note: The intent is to offer some participants in this study the opportunity to enroll in the subsequent 4D-CHM-CP-0001 Phase 1-2 clinical trial.

Inclusion Criteria

Participants must meet all of the following three criteria:

  1. Age 14 and older
  2. Male gender
  3. Must have CLIA-certified molecular diagnosis of disease causing mutation in the REP-1 gene and clinical diagnosis of symptomatic choroideremia (CHM)

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

Type 1 Advanced CHM (worse eye) criteria:

  • Visual field in the worse eye must be less than 30 degrees (Goldman III4e)
  • 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 III4e)
  • 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.

Exclusion Criteria

1. Unable or unwilling to meet requirements of the study;
2. Participation in a clinical study (ocular or non-ocular) with an investigational drug, agent or therapy in the past six months;
3. Prior therapy with an adeno associated vector-based treatment
4. Concurrent participation in an interventional clinical ocular study;
5. 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
6. Complicating systemic diseases that would preclude future enrollment in a therapeutic intent clinical trial
7. Cataract surgery, vitrectomy, intraocular and/or peri-ocular injection in the study eye within the prior six months
8. 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.