Choroideremia Gene Therapy Clinical Trial
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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: NCT02553135 |
Recruitment Status :
Completed
First Posted : September 17, 2015
Results First Posted : July 29, 2019
Last Update Posted : July 29, 2019
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Condition or disease | Intervention/treatment | Phase |
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Choroideremia | Biological: Injection of AAV2-REP1 (10e11 vg) | Phase 2 |
Study Type : | Interventional (Clinical Trial) |
Actual Enrollment : | 6 participants |
Allocation: | N/A |
Intervention Model: | Single Group Assignment |
Masking: | None (Open Label) |
Primary Purpose: | Treatment |
Official Title: | An Open Label Phase 2 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein 1 (REP1) |
Actual Study Start Date : | September 2015 |
Actual Primary Completion Date : | February 2018 |
Actual Study Completion Date : | February 2018 |

Arm | Intervention/treatment |
---|---|
Experimental: Injection of AAV2-REP1
Injection of AAV-REP1, 1.00x10e11 vg, subretinal injection of total volume of 100 μL.
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Biological: Injection of AAV2-REP1 (10e11 vg)
Single Group: single arm study |
- Change in Best Corrected Visual Acuity From Baseline [ Time Frame: Baseline, 24 Months ]Patients will have an assessment of visual acuity using the Early Treatment of Diabetic Retinopathy Study (ETDRS) vision charts in both eyes. Low Luminance BCVA was measured by placing a 2.0 log unit neutral density filter over the best correction for that eye and having the participant read the normally illuminated ETDRS chart and was reported as the number of letters read correctly (ranging from 0 to 100 letters) in the study eye. The lower the number of letters read correctly on the eye chart, the worse the vision (or visual acuity). The study eye was defined as the eye that met inclusion/exclusion criteria with the worst standard BCVA. If the BCVA in both eyes was similar the Patient determines the worse eye be selected as the study eye. A positive change from baseline indicates an improvement and a negative change from baseline indicates a worsening.
- Change in Retinal Macular Autofluorescence From Baseline [ Time Frame: 12 and 24 months ]Measured in mm^2 by Fundus Autofluorescence and shows changes in the integrity and metabolism of retinal cells. A negative change from baseline indicates a decrease in size of the retained retina (worsening; disease progression).
- Changes in Microperimetry From Baseline [ Time Frame: Baseline to 24 months ]Microperimetry assessments. A negative change from baseline indicates disease worsening.
- Number of Participants Who Experience an Adverse Event [ Time Frame: 24 months ]Adverse events during treatment and follow-up period

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.
Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- 18 Years and older
- Male
- Able to give informed consent
- Genetically confirmed diagnosis of choroideremia
- Active disease visible clinically within the macula region
- Best-corrected visual acuity equal to or worse than 20/32 but better than or equal to 20/200 in the study eye.
Exclusion Criteria:
- Female
- Under the age of 18
- History of amblyopia in the study eye
- Men unwilling to use barrier contraception methods
- Relevant grossly asymmetrical disease or other ocular morbidity which might confound use of the fellow eye as a long-term control
- Any other significant ocular and non-ocular disease/disorder or retinal surgery
- Contraindication to use of medications or contrast agents
- Participated in research study involving an investigational product in the past 12 weeks
- Having had gene or cellular therapy at any time prior to this study.

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT02553135
United States, Florida | |
Bascom Palmer Eye Institute, University of Miami | |
Miami, Florida, United States, 33136 |
Principal Investigator: | BYRON LAM, MD | UNIVERSITY OF MIAMI, BASCOM PALMER EYE INSTITUTE |
Documents provided by Byron Lam, University of Miami:
Responsible Party: | Byron Lam, Professor of Ophthalmology, University of Miami |
ClinicalTrials.gov Identifier: | NCT02553135 |
Other Study ID Numbers: |
20150371 |
First Posted: | September 17, 2015 Key Record Dates |
Results First Posted: | July 29, 2019 |
Last Update Posted: | July 29, 2019 |
Last Verified: | July 2019 |
choroideremia, gene therapy |
Choroideremia Eye Diseases, Hereditary Eye Diseases Choroid Diseases |
Uveal Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked |