A 31-year-old man from Sligo who was functionally blind has got his sight back after undergoing a new gene therapy treatment at a Dublin hospital.
Stuart Haxell, who was diagnosed with a very rare inherited retinal dystrophy, is the first person in Ireland to receive the ground-breaking ocular gene therapy treatment, ‘Luxturna.’
Mr Haxell had been functionally blind for 13 years, and had only been able to see a very small amount of light. He was treated at the Mater University Hospital in Dublin in November, but spoke about the incredible outcome of the treatment for the first time on Tuesday.
“For the first time in a decade I can see the world around me,” he told RTÉ’s Today with Claire Byrne programme, where he was joined by his surgeon, Consultant, Professor David Keegan.
Mr Haxell said he had initially just wanted answers, but ended up finding out he could receive the treatment, which took around 45 minutes.
“It is absolutely amazing. It is something that I never thought would be possible, to be honest,” Mr Haxell said.
“Before I went through and found out about this gene therapy treatment, I had given no thought to any sort of cure to my sight loss at all. I had just wanted to find out what type of genetic treatment I actually did have. So, to find out that my genetic condition was compatible with this gene treatment, it was absolutely inconceivable that anything like this could happen.”
Describing his journey and the gradual deterioration of his vision, he said: “I had a lot more sight when I was younger. I was able to use large print books and zoomed up amplification software. But over the years, it just got worse and worse, until I started using speech software which basically reads out everything for me on technology. It had gotten so bad to the point where I could possibly see a bit of light if the sun was very glary.
Mr Haxell said he was in disbelief that the treatment had such an impact.
“But now after the treatment that I received last year, I was able to read large letters that Professor Keegan held up to me. I think it was about two weeks after the second treatment, he held up a large print letter and I was able to read it. I came out of that room shook, to be honest.
Asked if it had changed his life, he said: “I feel it has. I haven’t gotten all my sight back, but the bit that I do have back, it’s absolutely amazing. I’m able to feel that I can come into a room and get a clearer idea of what to expect coming into a room. I can’t see particular details, but if I’m close to, say, a big huge table, I might get an idea that the table is in front of me. But I mightn’t be able to tell what’s on the table.”
His surgeon, Prof. David Keegan, a consultant at The Mater Hospital, Dublin, and a specialist in Ophthalmology, spoke of the “surprise” results of the treatment.
Prof Keegan explained that the treatment involves identifying patients with sufficient remaining retinal structure for treatment, removing the eye’s vitreous jelly, and administering an injection that creates a temporary retinal detachment, which then allows for the development of functional sight.
The retinal cells produce an enzyme for the vision to be restored.
The programme, which received funding from the HSE last year, has also been supported by Fighting Blindness, Shabra Charity and Vision Ireland.
“I’m glad to say that even doing this as long as I’ve been doing it, you still get surprised when there’s a moment like that. Colleagues of mine have delivered this treatment all over the years in the last number of years, and they told me about those moments.
“To actually have Stuart there doing it, not really expecting it, but going through the steps to see how far his vision had improved over those couple of weeks. It was after Stuart’s second eye treatment, the first eye took a little longer to catch up, so I didn’t really have that expectation that two weeks after that treatment, he would be able to map out letters.”
“It has worked. The first thing you do that day is make sure that no harm has come to Stuart’s eye. We’ve got to detach the retina to deliver this therapy. While it’s a fairly routine operation, 90 per cent of it, we now have to inject this fluid. We’ve got the virus that has got the new gene in it underneath the retina – so we’ve got to detach it.
“To make sure we’ve done no harm first, that’s the goal. Once we’ve confirmed that, the next thing is ‘has Stuart got any function back?’ Because he’s had such poor function for a long time, that was a little uncertain. It was great for Stuart and his mum – it was a bit emotional for Stuart, I think, in the room that day.”
“Stuart has got to get on with his rehabilitation, and then we’ve got to fet on with minding Stuart’s eye and making sure that’s maintained. Just two weeks ago, we were able to confirm in the objective measurements – these very important tests – for patients that objectively, as well as what Stuart had seen subjectively, that there had been an improvement in how the retina works.”
Asked if Mr Haxell’s sight may improve further, Prof Keegan said: “We would hope there would be some slight further improvements. Most of the improvement has happened for Stuart already. Remember, Stuart is a little older than what we would like, ideally. Ideally we would have got Stuart when he was four or five years of age – plenty of time to treat patients with the particular condition Stuart has. That type of retina degeneration, the younger the better.”
WILL OTHERS BENEFIT?
Prof Keegan welcomed the availability of the new treatment in Ireland. He said there are around 200 patients who are suitable for late-stage clinical trials, and that around 85 per cent of patients across the country with inherited retinal degenerations. The Mater expects to treat a second patient later this year.
“We’ve had three children treated. Unfortunately, they had to go abroad because we didn’t have the approval, while we were set up to do it. But they couldn’t wait for the treatment, so it was done through a different mechanism. It’s really nice to be able to say that it’s approved in this country – we can treat patients in this country. The whole team is there, ready to do it. The pharmacy team is there to deliver that and follow on from the success that Stuart has had.”
“We estimate between five and ten patients in the country will have this condition at any one time. Maybe we’ll detect another one patient every two to three years to do it. On one hand, it seems like an awful lot of work t go through to treat a few patients, but we already know there’s a full raft of treatments coming down the track for more common retinal degenerations.”
“It’s important that we have this ability, we have the technology and wherewithal in the country to do that, which we do now.”
“This is the start of the precision medicine era,” Prof Keegan said,” the surgeon added.
Asked what the procedure was like for him, Mr Haxell said he was “a bit nervous” because he had never gone into a surgery that he had remembered. He admitted he had normal fears, and that the recovery was tricky because he had to lie down flat ford 24 hours to allow the retina to reattach properly.
“Honestly, I’m so glad that everything went so well. It was worth it even though it was difficult at points.”