Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

The positive results of the world’s first gene therapy trial for a genetic cause of blindness known as choroideremia have been reported in this week’s edition of Nature Medicine.

The trial, led by Professor Robert MacLaren in our Department, involved 14 patients receiving a single injection into the back of the eye of a virus containing the missing gene and began in 2011 at the Oxford Eye Hospital - part of the Oxford University Hospitals NHS Foundation Trust. By the end of the study there was a significant gain in vision across the group of patients as a whole.

Furthermore, of the 12 patients who received the treatment without any complications, 100% either gained or maintained vision in their treated eyes, which was sustained for up to 5 years at the last follow up. During this time only 25% of the untreated eyes which acted as controls maintained vision. The gene therapy treatment was generally well tolerated and there were no significant safety concerns.

The early results of vision improvement we saw have been sustained for as long as we have been following up these patients and in several the gene therapy injection was over five years ago. The trial has made a big difference to their lives.
- Professor Robert MacLaren

The success of the Oxford study has since led to a much larger international gene therapy trial involving over 100 patients across nine countries in the EU and in North America. It is now led by Nightstar Therapeutics, a gene therapy spin-out company established by the University of Oxford and Syncona to develop the treatment further. If successful the follow on trial could result in the gene therapy treatment being formally approved by the relevant regulatory bodies worldwide.

Overall gene therapy is a new treatment that is currently being developed in several trials for a variety of diseases. The concept of gene therapy is to alter or correct inherited diseases at the level of the DNA and if successful, a single treatment might have life-long effects. These early results support the notion that a single gene correction can have long-lasting beneficial effects on nerve cells of the retina to prevent blindness.

Choroideremia is one disease in a spectrum of inherited eye diseases sometimes referred to as ‘retinitis pigmentosa’ and which have now become the most common cause of untreatable blindness in young people. Last month, the European Medicines Agency formally approved its first gene therapy treatment for a different eye disease. Experts predict that other currently incurable diseases are likely to follow and will have approved gene therapy treatments in future years.

Similar stories

Accidental awareness in obstetric surgery under general anaesthesia more frequent than expected

Anaesthetics Research

The largest ever study of awareness during obstetric general anaesthesia shows around 1 in 250 women may be affected, and some may experience long-term psychological harm.

Two neurologists awarded MRC Senior Clinical Fellowships

Clinical Neurology Research

Two of our Associate Professors, Sarosh Irani and George Tofaris, have been awarded MRC Senior Clinical Fellowships.

Developing diagnostics for COVID-19

Clinical Neurology Coronavirus Research

Associate Professor Sarosh Irani, who heads up our Autoimmune Neurology Group, has been funded by Mologic to help develop diagnostics for COVID-19.

COVID-19 and Guillain-Barré syndrome

Clinical Neurology Coronavirus Research

Multiple recent case reports have suggested a link between COVID-19 and Guillain-Barré syndrome (GBS), an acute, disabling, immune-mediated disorder of the peripheral nervous system. It is currently unclear whether this simply represents a chance association.

The brain understands relationships in the same way as it understands how to move in space

Integrative Neuroimaging Research

Researchers led by a team at the Wellcome Centre for Integrative Neuroimaging at the University of Oxford have developed a new framework that binds together the way the brain forms maps of space to the way the brain understands relationships of any kind – general mental maps.