An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia
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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: NCT02077361 |
Recruitment Status :
Active, not recruiting
First Posted : March 4, 2014
Last Update Posted : February 16, 2021
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Condition or disease | Intervention/treatment | Phase |
---|---|---|
Choroideremia | Genetic: rAAV2.REP1 vector | Phase 1 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 Clinical Trial of Retinal Gene Therapy for Choroideremia Using an Adeno-associated Viral Vector (AAV2) Encoding Rab-escort Protein-1 (REP1) |
Study Start Date : | April 2015 |
Actual Primary Completion Date : | August 30, 2017 |
Estimated Study Completion Date : | September 1, 2025 |

Arm | Intervention/treatment |
---|---|
Experimental: Open Label
Patients will receive a subretinal injection of 0.10 ml of the rAAV2.REP1 vector drug substance. It is a colourless opalescent frozen liquid with no visible particles. Each patient will be given a one-time dose in one eye. It is the same vector used in the United Kingdom Phase I/II trial logged at: http://clinicaltrials.gov/ct2/show/NCT01461213. |
Genetic: rAAV2.REP1 vector
No additional details needed. |
- Number of patients with ocular and systemic adverse events [ Time Frame: 2 years ]This is assessed by standard ocular examinations and vector dissemination and inflammation assays.
- Changes in visual field [ Time Frame: Baseline and up to 2 years following vector delivery ]This is assessed by Goldmann perimetry and microperimetry; measurements before and after vector delivery are compared.
- Changes in visual function [ Time Frame: Baseline and 2 years following vector delivery ]This is assessed by multifocal electrophysiology, full field scotopic threshold, spectral domain optical coherent tomography, fundus photography and fundus autofluorescence; measurements before and after vector delivery are compared.

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Ages Eligible for Study: | 18 Years and older (Adult, Older Adult) |
Sexes Eligible for Study: | Male |
Accepts Healthy Volunteers: | No |
Inclusion Criteria:
- The research subject is willing and able to give informed consent for participation in the study.
- Male aged 18 years or above.
- Diagnosed with choroideremia (with genotyping or evidence of lack of the gene product with immunohistochemistry) and in good health.
- Active degeneration of the retina (the expectation of significant decline in visual function without any intervention over the subsequent 5 years) with OCT (optical coherent tomography) changes visible within the macula.
- Willingness to allow his general physician and ophthalmologist, if appropriate, to be notified of participation in the study.
Exclusion Criteria:
The participant may not enter the study if ANY of the following apply.
- Female or child research subject (under the age of 18).
- Men unwilling to use barrier contraception methods, if relevant.
- Previous history of retinal surgery or ocular inflammatory disease (uveitis).
- Grossly asymmetrical retinal disease or other ocular morbidity which might confound adopting the fellow eye as a long-term comparator.
- Any other significant systemic disease or disorder which, in the opinion of the investigator, may either put the research subject at risk because of participation in the study, or may influence the result of the study, or the research subject's ability to participate in the study. This would include a contraindication to oral prednisolone, such as a history of gastric ulcer).
- Research subjects who have participated in another research study involving an investigational product within the past year.

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): NCT02077361
Canada, Alberta | |
University of Alberta | |
Edmonton, Alberta, Canada, T6G 2E1 |
Principal Investigator: | Ian M MacDonald, MD, CM | University of Alberta |
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):
Responsible Party: | Ian M. MacDonald, Professor, Department of Ophthalmology and Visual Sciences, University of Alberta |
ClinicalTrials.gov Identifier: | NCT02077361 |
Other Study ID Numbers: |
Pro00028599 File # 9427-U0180-84C ( Other Identifier: Health Canada ) |
First Posted: | March 4, 2014 Key Record Dates |
Last Update Posted: | February 16, 2021 |
Last Verified: | February 2021 |
choroideremia gene therapy gene transfer |
Choroideremia Eye Diseases, Hereditary Eye Diseases Choroid Diseases |
Uveal Diseases Genetic Diseases, Inborn Genetic Diseases, X-Linked |