Voretigene ‘one year on’

‘It has transformed my world’ – one year on from revolutionary treatment to halt sight loss.

The past year has been one like no other. The COVID-19 pandemic has forced our worlds to shrink and created a new and bizarre norm.

But, for 24-year-old Jake he has seen his world grow and is glimpsing it more clearly for the first time.

This is because in the past 12 months he has gone from having no vision in one of his eyes to being able to read letters, send emails and even watch his beloved Newcastle United Football Club on TV all thanks to a revolutionary new gene therapy offered on the NHS in England.

An eye-opening treatment

Jake was born with a rare inherited eye disorder called retinal dystrophy, which causes progressive sight loss. He had a faulty copy of the RPE65 gene which plays an important role in producing the pigment that cells in the retina need to absorb light and let us see.

The revolutionary treatment involves placing a healthy RPE65 gene into an inactive and harmless virus and injecting this into the back of the eye. The virus then introduces the new gene to the cells in the retina and they can start producing the pigment patients like Jake need to see again.

Jake had his treatment at the world-leading Moorfields Eye Hospital in London in February 2020 in what was the first such surgery in the UK. As he boarded the train back to Newcastle with his family he was hoping that the treatment would have an impact.

As with any revolutionary and cutting-edge treatment, there is always a period of watching and waiting and, in this case, Jake’s world has been transformed.

‘I can’t thank the NHS enough…it gave me a life back’

Jake is now 24 and lives in County Durham with his family. He has regularly posted about his experiences on his YouTube channel and in a post from July 2020 he highlights how he can read text messages and letters for the first time.

The biggest effect of Jake’s treatment has been on his mental health. For the six years before his operation he was on antidepressants and anxiety medication and had little confidence. Now he says he was able to come off the medication in August 2020, and even though for most people last year was very difficult, it was ‘probably the best year of his life’ and the operation was ’life-saving’.

Or as Jake put it, ‘it gave me a life back.’

Now, some 12 months after his treatment, he can watch his cherished Newcastle United on television and can follow the ball for the first time. He can’t wait to go to St James’ Park and watch the team play, rather than just go for the atmosphere, and he hopes to return to playing visually impaired football.

To mark this moment and the incredible progress he has made, Bob Moncur, former captain and Newcastle United legend, sent him a video message to wish him well and to thank him for his support.

A vision for the future

Jake is just one of more than 20 patients who have received the treatment so far and more will receive it as we progress through the tough challenges facing the NHS at the moment.

This treatment was made available to NHS patients thanks to a ‘smart deal’ that secured rapid access and represented value for the NHS. It is another example of the NHS utilising its world-leading commercial capabilities to get innovative medicines into the hands of clinicians and is fundamental to the delivery of the NHS Long Term Plan.

For many patients who have a rare condition, it can be the uncertainty that is the worst thing of all. Not knowing what condition you have, if there is even a diagnosis, and the likelihood of treatment being developed are all questions that can go unanswered.

Thankfully in the case of Jake, a treatment has been developed and it has made his quality of life improve immeasurably. The best way to summarise this is perhaps using the words of Jake himself, ‘thank you to everyone in the NHS, the medical teams, my consultant…I never expected this to happen in my lifetime, but it has.’

Dr Ayesha Ali

Dr Ayesha Ali, Medical Advisor to Highly Specialised Services at NHS England and NHS Improvement.

Professor James Bainbridge

Professor James Bainbridge, Consultant Retinal Surgeon Moorfields Eye Hospital NHS Foundation Trust.