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Microscope opens up blindness cure

A Phase II trial for a gene therapy treatment for choroideremia has launched

Double helix

Thirty patients with choroideremia will undergo surgery to halt the deterioration of their vision – thanks to the University of Oxford and a state-of-the-art microscope.

The Phase II trial aims to introduce a healthy copy of a gene, which is faulty in patients with the disease, to retinal cells. In order to do this, surgeons need a precise view of the retina to ensure the gene therapy is delivered safely and accurately.

A new operating microscope with optical coherence tomography capabilities will enable University of Oxford ophthalmology researcher, Professor Robert MacLaren, to carry out the surgery on the patients.

The first patient to undergo the procedure, in the trial funded by the Medical Research Council and National Institute for Health Research, was 45-year-old Paul McGuire from Essex. He has already noticed a “slight improvement” in his vision following the procedure in September.

Mr McGuire was diagnosed with choroideremia four years ago, after visiting his local optician for an eye infection. He had struggled with his night and peripheral vision for years, but attributed his issues to clumsiness.

During his annual check up, clinicians told Mr McGuire about the second phase of the choroideremia gene therapy study, which he was keen to get involved in.

He said that, after receiving the therapy, his confidence in his night vision has improved. His central vision remains good, while he describes his peripheral vision as “somewhat smudged.”

Mr McGuire emphasised that: “I'm incredibly grateful to have had the opportunity to potentially halt further deterioration in one eye and 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.”

The trial follows on from successful early-stage clinical trials of the therapy.

Professor MacLaren highlighted that: “If successful, this trial can be translated to other conditions such as retinitis pigmentosa, which affects one in 4000 people.”

A number of other groups provided funding towards the microscope, including the Tommy Salisbury Choroideremia Fund at Fight for Sight, the National Eye Research Centre, the Choroideremia Research Foundation USA, the Saturday Hospital Fund and benefactors of the MacLaren Group.

Fight for Sight research director, Dolores Conroy, emphasised that: “Professor Robert MacLaren and his team at Oxford have been making incredible breakthroughs…[This research] gives patients hope that one day there could be a cure for the condition.”

Image credit: Caroline Davis