GOSH and Moorfields treat the UK’s youngest patient with sight-saving gene therapy

Back in February 2020, Great Ormond Street Hospital for Children NHS Foundation (GOSH) and Moorfields Eye Hospital NHS Foundation Trust (Moorfields) announced that they would be providing a joint service, to provide children and adults with the sight-saving gene therapy treatment, Voretigene Neparvovec.

This novel treatment is the first of its kind for one of the genetic causes of Leber’s Congenital Amaurosis (LCA), a mutation in the RPE 65 gene, that causes retinal dystrophy and affects 1 in 40,000 newborns.

The condition prevents cells in the eye from making a specific protein that is essential for normal vision. Babies born with the condition have poor sight from infancy which further deteriorates, with many ultimately losing their vision completely in adulthood.

The treatment, also known as Luxturna, is injected under the retina inside the eye, and restores the ability to make the normal protein like that in a healthy functioning eye.

Leo was only a few months old when his parents, Manuela and Mitchell, noticed something was not right with his vision.

His mother, Manuela recalls: “We would play with him as you do with babies, pulling funny faces or moving around, and we noticed he did not react and he wasn’t tracking us. With Leo being our first baby, we tried not to worry too much at first. But as the months went on, we realised things were not improving and other behaviours emerged as well. For example, he would become distressed in dark places or hold toys and objects up to the light or very close to his face. During a family trip to Italy, we also noticed that he was looking directly into the sun or spotlights. So, we did what any parent might do in this situation and we started looking for answers.”

At 18 months old, Leo came to GOSH for a test to check the function of the eye. It was after this that the family learned that the light sensitive cells in his retina were not working properly. The diagnosis meant that the family had answers to what was happening with Leo, but it was during an appointment at Moorfields a few months later that they learned why.

During a visit with Prof. Mariya Moosajee, consultant ophthalmologist in genetic eye disease at Moorfields and GOSH, the family was asked whether they would consider a genetic test to see whether the condition was inherited. Soon after agreeing Manuela and her husband, Mitchell, found out that they were both carriers of the RPE65 gene mutation. For Leo, this could lead to the total loss of vision by the time he was a teen.

Manuela said: “We were shocked, but at least we had all the answers we needed.”

Following the news, the teams at Moorfields and GOSH convened an MDT to assess Leo’s eligibility to receive Luxturna, a new treatment that could potentially save his sight. It was then up to Leo's family to decide.

Robert Henderson, consultant ophthalmologist at GOSH and Moorfields said: “We know that loss of vision can greatly impact children and their families. That’s why this collaboration between GOSH and Moorfields is so significant. It’s bringing cutting-edge therapy to the youngest patients with this incredibly rare condition – who are at risk of losing their vision completely – and it’s not only preventing their vision from getting worse but its also improving their vision, it’s life-changing.”

Manuela said: “The best way to describe what it was like for Leo is to imagine putting on a pair of sunglasses and then making a binocular shape with your hands around that – that’s what he could see. He was night blind and had no peripheral vision. He couldn’t stand being in a poorly lit room, or walking in a forest because the light changed constantly and he couldn’t see well. It was frustrating for him and it showed in his behaviour and moods. So, when he turned three in May and became eligible for Luxturna under the NHS, we just knew we had to try.”

In October 2020, at three years old, Leo was the youngest patient in the UK to receive this life-changing gene therapy treatment into his eyes. The procedure was done in two stages before Christmas. The family describes it as the best gift they could have possibly received. Speaking of the experience, Manuela said: “We saw a dramatic improvement within 10 days after the first eye was treated. He’s discovering so much around him that before he couldn’t access, particularly at night or in areas that are not as well lit. We’ve gone to see Christmas lights at night, and he saw the moon for the first time last year! Everyday is like a new adventure for him, and things are less scary. We’re grateful to the teams at GOSH and Moorfields for making his world brighter.”

Speaking of the results, Dr. Henderson said: “We are so pleased for Leo and his family. His results are very encouraging, with his daytime vision being clearer and he’s improved four lines on the eye chart. This provides us with growing evidence that suggests that younger children receiving this treatment could see better results, so we’re keen to ensure that these very young patients have access in the near future.”

You can follow Leo and his family’s journey for answers and his treatment in the BBC 2 documentary, DNA: Family Secrets on Tuesday 16 March at 9pm.