Clinical Trial: An Open Label Clinical Trial of Retinal Gene Therapy for Choroideremia

Study Status: Active, not recruiting
Recruit Status: Active, not recruiting
Study Type: Interventional

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)

Brief Summary: 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.

Detailed Summary: 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.
Sponsor: Ian M. MacDonald

Current Primary Outcome: 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.


Original Primary Outcome: Same as current

Current Secondary Outcome:

  • 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.


Original Secondary Outcome: Same as current

Information By: University of Alberta

Dates:
Date Received: February 26, 2014
Date Started: April 2015
Date Completion: December 2018
Last Updated: May 1, 2017
Last Verified: May 2017