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The trial involves injecting a virus into the eye to deliver billions of healthy genes to replace a key missing gene for choroideremia sufferers.

Gene therapy phase two
Kanmin Xue, Mike Daw (National Eye Research Centre), Dolores Conroy (Fight for Sight), Dot Grindley and Emma Salisbury (Tommy Salisbury Choroideremia Fund), Robert MacLaren

The University of Oxford-led study has enrolled 30 participants at the John Radcliffe’s Oxford Eye Hospital, led by Professor Robert MacLaren of the Nuffield Department of Clinical Neurosciences.

The study will use an operating microscope with integrated optical coherence tomography (OCT) that will refine the surgery integral to the gene replacement therapy. The OPMI Lumera 700 Rescan enables surgeons to track changes in the retinal anatomy in real time and thereby permit safe and precise delivery of the gene therapy virus.

Paul McGuire, 45, from Billericay, Essex, was diagnosed with the condition in March 2013 and was the first patient to have the operation using the operating microscope. He said: “I can’t thank the team at Oxford enough. I’m incredibly grateful to have had the opportunity to potentially halt further deterioration in one eye and I already feel it has made a slight improvement to my vision. Having experienced first-hand the benefits of technology and the importance of eye research I will continue to fundraise for Fight for Sight and hope one day there will be a cure.”

On behalf of the Clinical Ophthalmology Research Group at the University of Oxford I would like to thank all its generous benefactors for assisting us in raising funds for an OCT operating microscope for the Oxford Eye Hospital. The equipment is being used in exciting new gene therapies for the treatment of patients suffering from incurable eye conditions.
- Professor Robert MacLaren

The microscope’s funders include Fight for Sight, Tommy Salisbury Choroideremia Fund at Fight for Sight, National Eye Research Centre, Choroideremia Research Foundation USA, Saturday Hospital Fund and benefactors of the MacLaren Group. The gene therapy trial has been funded by the Efficacy and Mechanism Evaluation (EME) Programme, a Medical Research Council (MRC) and NIHR partnership. The Tommy Salisbury Choroideremia Fund contributed £45,000 towards the £191,000 cost of the microscope.

The family have been supporters of Fight for Sight, the UK’s main eye research charity since Tommy Salisbury, 16, was diagnosed with choroideremia aged four. After Tommy’s diagnosis the family set up the fund through Fight for Sight and in the past decade have raised more than £500,000 for research into the condition.

His mother Emma Salisbury, 46, from Welling, along with her mum, Dot Grindley, who set up the fund, said: “Through our efforts we were able to help fund initial research that enabled Professor MacLaren to start the first clinical trial, so to be able to continue to raise additional funds and support the second phase is really exciting. It gives Tommy and us as a family tremendous hope that one day a cure will be found.”

Prof MacLaren said: “By using the OCT operating microscope it allows for better and safer outcomes for patients due to more refined surgery using the microscope. If successful this trial can be translated to other conditions such as retinitis pigmentosa, which affects one in 4,000 people.”