Oxford BRC has been at the forefront of attempts to treat sight-loss conditions using gene therapy.
A trial, led by Prof Robert MacLaren, to tackle choroideremia, a rare genetic cause of blindness, has shown positive results in terms of visual acuity gains across patients taking part. The trial, which began in 2011, involved 14 patients at the Oxford Eye Hospital receiving a single injection into the back of the eye of a virus containing the missing gene. By the end of the study, published in 2018, there was a sustained gain in vision across the group of patients as a whole.
A similar trial was carried out with patients who have a more common form of blindness, retinitis pigmentosa. Early results from the study showed partial reversal of sight loss in some patients. Six patients had unexpected improvements in their peripheral vision beginning as early as one month after the treatment.
Now gene therapy is being deployed against the UK’s most common cause of sight loss, age-related macular degeneration. Prof MacLaren carried out the first procedure designed to correct the underlying gene defect in a new Phase 1 trial in January 2019. Rather than ‘curing’ the condition, it is hoped the gene therapy will halt the progress of the disease, meaning that in future, early intervention might stop the disease before an affected patient experiences significant vision loss.
Oxford’s research in retinal gene therapy has led to the creation of a spin-out company, Nightstar Therapeutics, which was floated as a publicly traded company on the NASDAQ stock exchange in September 2017 with a market capitalisation of around $600m.