The life-changing effects of gene therapy for Leber congenital amaurosis

A Moorfields Eye Hospital patient who was first to receive a pioneering gene therapy for Leber congenital amaurosis (LCA) has described the impact of the treatment six years after its introduction on the NHS.

County Durham resident, Jake Ternent, received the gene therapy Luxturna in 2020. He shared that receiving the treatment had enhanced his independence.

“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 [seeing] things I thought I had lost forever before the treatment, such as sunsets or animals in nature,” he said.

Ternent noted that his nighttime and distance vision have improved since the treatment.

“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,” he said.

Moorfields Eye Hospital

Moorfields Eye Hospital patient, Jake Ternent, on right, with his family at Wembley Stadium

Following his treatment with Luxturna, Ternent has experienced fewer worries about losing his vision.

“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,” he said.

Research exploring vision outcomes in young children

In January, researchers from Great Ormond Street Hospital (GOSH) published research in JAMA Ophthalmology published a study outlining the visual outcomes among 14 young children treated with Luxturna.

Study co-author, Robert Henderson, who is a consultant ophthalmologist at both Moorfields Eye Hospital and GOSH, highlighted: “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.”