\- Primary objective: To assess the safety and tolerability of the AAV.REP1 vector, administered at two different doses to the retina in 12 patients with a diagnosis of choroideremia. \- Secondary Objective: To identify any therapeutic benefit as evidenced by a slowing down of the retinal degeneration assessed by functional and anatomical methods in the treated eye compared to the control eye 24 months after gene delivery.
Detailed description may be found in the following scientific publication: Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial, The Lancet, Volume 383, Issue 9923, Pages 1129 - 1137 (29 March 2014). Links: www.thelancet.com/journals/lancet/article/PIIS0140-6736(13)62117-0/abstract ; http://dx.doi.org/doi:10.1016/S0140-6736(13)62117-0
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
TREATMENT
Masking
NONE
Enrollment
14
Single subretinal injection of rAAV2.REP1 vector suspension containing 10e12 genome particles per ml. Dose 1 = dose containing approximately 10e10 rAAV2.REP1 genome particles. Dose 2 = dose containing approximately 10e11 rAAV2.REP1 genome particles.
Moorfields Eye Hospital NHS Foundation Trust
London, United Kingdom
St Mary's Hospital, Central Manchester University Hospitals NHS Foundation Trust
Manchester, United Kingdom
Oxford Radcliffe Hospitals NHS Trust
Oxford, United Kingdom
Eye Unit, Southampton University Hospitals NHS Trust
Southampton, United Kingdom
Visual acuity
Best corrected visual acuity, following cataract surgery if indicated
Time frame: 6 months
Microperimetry, OCT and fundus autofluorescence
Structure function correlations at the margins of the retinal degeneration
Time frame: 24 months
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