A six-year-old girl from Hertfordshire has had her sight restored after receiving a pioneering gene therapy on the NHS, offering new hope for children with a rare and devastating form of inherited blindness.
Saffie Sandford, from Stevenage, was diagnosed with Leber’s Congenital Amaurosis (LCA) at the age of five after her parents noticed she was struggling to see in the dark. The condition, which affects photoreceptor cells in the eye from birth, leads to severe vision loss and often legal blindness. For Saffie, it meant having no vision in low light and facing the prospect of complete sight loss by adulthood.
“We were told that without the treatment, she would be blind by the age of 30,” said her mother, Lisa. “Before she had the treatment, her condition was really life-limiting. She was blind in the dark, which made daily activities challenging.”
Following diagnosis at Moorfields Eye Hospital in London, Saffie was transferred to Great Ormond Street Hospital (GOSH), where she underwent a one-off treatment called Luxturna in April and September of 2025. The results, her mother says, have been transformative. “Having the gene treatment has been life-changing, it’s like someone waved a magic wand and restored her sight in the dark,” she said. The family can now enjoy evening activities like trick-or-treating and dining out, while Saffie’s improved peripheral sight in daylight has made her safer and more confident at school and play.
How a single injection can restore vision
The treatment that changed Saffie’s life is the first approved gene therapy in the UK for inherited retinal dystrophies. Known commercially as Luxturna, it targets a specific form of LCA and retinitis pigmentosa caused by mutations in the RPE65 gene. This gene is crucial as it provides instructions for making a protein essential for normal vision, particularly in low light.
The therapy works by delivering a functional copy of the RPE65 gene directly into the retina via a delicate keyhole surgical procedure. The healthy gene is ferried into the retinal cells using a harmless, modified virus. Once inside, it enables the cells to start producing the vital protein they had been missing, effectively restoring the visual cycle. The National Institute for Health and Care Excellence (NICE) recommended Luxturna for use on the NHS in September 2019, with treatment becoming available from early 2020. NHS England agreed a confidential discount deal with the manufacturer Novartis for the therapy, which has a list price of £613,410 per patient, securing access for around 100 patients.
Evidence for early intervention
Recent research underscores why Saffie’s treatment at a young age is so significant. A study by teams at GOSH and University College London (UCL), published in *The Lancet*, followed 15 children treated with Luxturna between 2020 and 2023. It found the therapy can improve sight and, crucially, strengthen visual pathways in the brain during a critical window of development.
The researchers, who treated children as young as 15 months old, noted that while improvements in visual acuity were more limited in older children, the youngest patients showed greater gains. To objectively measure these changes in young children for whom traditional eye charts are difficult, the team used pattern visual evoked potentials (VEPs)—a painless test that measures how well signals travel from the retina to the brain’s visual cortex.
“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,” said Rob Henderson, consultant ophthalmologist at GOSH. He added that pattern VEPs could set a new global standard for assessing paediatric gene therapy trials.
To be eligible for Luxturna, patients must have two faulty copies of the RPE65 gene, confirmed by genetic testing, and must retain a reasonable number of viable retinal cells. The treatment is available through specialist NHS centres including GOSH for children under 10, Moorfields, Manchester Royal Eye Hospital, and Oxford Eye Hospital.
A milestone for advanced medicines
While not described as a permanent cure, and with longer-term data still being gathered, the success of Luxturna represents a major milestone. Real-world evidence suggests it provides meaningful benefits in functional vision and quality of life, particularly for younger patients. The therapy is generally well-tolerated, though studies have reported complications such as transient inflammation or elevated eye pressure, which have not typically prevented visual gains.
The breakthrough also paves the way for other genetic treatments. Research is already exploring therapies for even rarer forms of LCA, such as that caused by defects in the AIPL1 gene. Furthermore, the NHS’s commitment to funding such advanced, high-cost treatments is demonstrated by its backing of other gene therapies for conditions like metachromatic leukodystrophy and AADC deficiency.
For families like Saffie’s, the impact is immediate and profound. “We know it might not last forever, but we feel fortunate every day that she has been given this chance,” her mother said. As researchers continue to monitor the long-term outcomes, Saffie’s story stands as a powerful example of how cutting-edge science, delivered through the health service, can alter the course of a young life.
