Six-year-old Saffie Sandford has received groundbreaking gene therapy on the NHS for Leber's Congenital Amaurosis, a rare genetic condition that would have left her blind by age 30 without treatment, according to her family and medical reports. Saffie Sandford underwent treatment with Luxturna, which her doctors describe as the first therapy of its kind approved for one of the genetic causes of LCA. Researchers at Great Ormond Street Hospital and University College London have recently published findings showing Luxturna can improve sight and strengthen visual pathways in patients, based on their clinical studies.
Saffie received the gene therapy in her first eye in April 2025 and in her second eye in September of the same year, her medical team reported. She had been diagnosed as short-sighted at age two and already wore glasses before her LCA diagnosis, according to her parents. Before treatment, Saffie's condition was life-limiting, making her blind in the dark and daily activities challenging, her family said.
Her parents, Lisa and Tam, are carriers of the genetic condition, medical records indicate. Without treatment, she would be blind by age 30, according to her doctors. The gene therapy has restored Saffie's night vision and improved her peripheral sight in daylight, her family reports.
Saffie can now see hazards, has improved at school, and participates in normal activities like playing on a climbing frame, her parents say. While the results have been incredible, the treatment's longevity remains uncertain, her medical team notes. Several unknowns persist, including the specific genetic mutation causing Saffie's LCA and how many other patients have received Luxturna on the NHS.
The long-term success rates, potential side effects, patient qualification criteria, and treatment costs to the NHS also remain unclear.