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World’s first gene therapy operation for common cause of sight loss carried out


NIHR researchers have carried out the world’s first gene therapy operation to treat age-related macular degeneration (AMD), the most common cause of sight loss in the UK.

The procedure was carried out by Professor Robert MacLaren, Professor of Ophthalmology at the University of Oxford, with support from the NIHR Oxford Biomedical Research Centre in a clinical trial sponsored by Gyroscope Therapeutics.

AMD affects over 600,000 people in the UK. The ‘dry’ form of the disease causes a slow deterioration of the cells of the macula, affecting the central part of a patient’s vision with gaps or ‘smudges’ and making everyday activities like reading and recognising faces difficult.

The operation involves detaching the retina and injecting a solution containing a virus underneath. The virus contains a modified DNA sequence, which infects cells and corrects a genetic defect that causes AMD. 

The aim of the therapy is to halt the progress of the condition and preserve what vision patients have remaining. If successful, it is hoped that gene therapy can be used in the future on patients with early AMD and so halt the disease before their vision has started to deteriorate.

Prof MacLaren says: “A genetic treatment administered early on to preserve the vision in patients who would otherwise lose their sight would be a tremendous breakthrough and certainly something I hope to see in the near future.”

The first person to undergo the procedure was Mrs Janet Osborne of Oxford. Like many people with AMD, she has the condition in both eyes, but it is more advanced in her left eye. 
The 80-year-old says that her restricted vision makes household tasks like preparing vegetables and sewing difficult, and she cannot read for very long. Often she finds it hard to recognise faces.

She says her motivation for taking part in the trial was the possibility of helping others with AMD. “I wasn’t thinking of me. I was thinking of other people,” she said. “For me, I hope my sight doesn’t get any worse. That would be fantastic. It means I wouldn’t be such a nuisance to my family.”