This trial is active, not recruiting.

Condition choroideremia
Treatment raav2.rep1 vector
Phase phase 1/phase 2
Sponsor Ian M. MacDonald
Collaborator Alberta Innovates Health Solutions
Start date April 2015
End date March 2017
Trial size 6 participants
Trial identifier NCT02077361, File # 9427-U0180-84C, Pro00028599


A project has been developed in Edmonton, Alberta, Canada to enable male patients with choroideremia to access a clinical trial that replaces the defective gene with a normal copy. This experiment is designed to show that the transfer of a normal copy of the gene to the eye is not only safe but may improve the sight of patients. Only Canadian subjects who meet criteria will be recruited.

United States No locations recruiting
Other countries No locations recruiting

Study Design

Endpoint classification safety study
Intervention model single group assignment
Masking open label
Primary purpose treatment
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.
raav2.rep1 vector
No additional details needed.

Primary Outcomes

Number of patients with ocular and systemic adverse events
time frame: 2 years

Secondary Outcomes

Changes in visual field
time frame: Baseline and up to 2 years following vector delivery
Changes in visual function
time frame: Baseline and 2 years following vector delivery

Eligibility Criteria

Male participants at least 18 years old.

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.

Additional Information

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)
Principal investigator Ian M MacDonald, MD, CM
Description This is an open label study involving a total of 6 male patients. Screening and patient medical records will determine patient eligibility. Patients will receive a subretinal injection of the rAAV2.REP1 vector by a trained vitreoretinal surgeon in one eye. Each patient will be followed up for 24 months after treatment to assess the primary and secondary endpoints of this study using a number of outcome measures. However, further follow-up will continue after the study on an annual basis for a minimum of ten years. Data will continue to be analyzed by members of the study group after this study is complete.
Trial information was received from ClinicalTrials.gov and was last updated in September 2016.
Information provided to ClinicalTrials.gov by University of Alberta.