Five years ago, NICE (the National Institute for Health and Care Excellence) approved a groundbreaking genetic therapy to treat the rare eye disease (leber congenital amaurosis, or LCA).
This condition leads to sight loss, but the therapy delivers working copies of the RPE65 gene, to enable the production of the protein required to maintain health photoreceptor cells in the retina.
This treatment has now shown promise in children in a GOSH study published in the journal JAMA Ophthalmology. The study was led by Robert Henderson, who is a consultant ophthalmologist at both Moorfields Eye Hospital and GOSH. He was part of the team five years ago, and the patient whose story was featured widely for this new paper was diagnosed at Moorfields.
He said: “For the first time, we’ve been able to show objectively that gene therapy can strengthen the visual pathways in babies and young children who are living with this rare eye condition. For many of the families we work with, even small improvements in their child’s ability to see the world around them make a profound difference.
“This research highlights not only the potential of gene therapy to change what’s possible for children with inherited retinal disease, but also the importance of developing age-appropriate outcome measures. [Our approach] could help set a new standard for how future paediatric gene therapy trials are assessed around the world.”
First patient Jake Ternent – how the breakthrough has helped him, five years on
To mark this milestone, we asked Jake, who was the first to receive the treatment on the NHS, how it has helped him:
“There is no word that can fully describe how much my self-confidence has improved. Imagine waking up and not worrying about what you are not able to see or do today that you could yesterday. I don't fear losing my vision as much.
“Independence is key to me, not having to rely on others speaks for itself. I've been able to leave the house by myself. I can walk to my local bus stop independently, and I enjoy walking along the beautiful coastline we have in the north-east and things I thought I had lost forever before the treatment, such as sunsets or animals in nature.
“My nighttime and distance vision have improved. My sister still can't believe some of the things I'm able to see and point out to her at football matches; I was even the first to see Wembley stadium when we went there for the recent cup final. I can point out signals on the local light rail system to my dad and leave him speechless.
I am able to stream games live on Twitch, and I've been able to write and release a song, 'Nothing Stops Me', which embodies my thoughts to my life after the treatment.
Jake added, about his care at Moorfields:
“They have changed my life in so many ways and I am eternally grateful for them and the other medical geniuses that made this possible. I live my life now without the impending knowledge that this may be the last day I can see, which is so powerful mentally, and that is all down to these people.”
Click here for the GOSH web page (which explains more about the treatment, including six year old Saffie’s story).
Click here for the full JAMA Ophthalmology paper.