A six-year-old girl, identified as Saffie Sandford from Stevenage, has experienced a significant change in her vision following a gene therapy treatment. The intervention, known as Luxturna, involved injecting a healthy copy of a gene directly into each of her eyes. This one-off therapy targets Leber's Congenital Amaurosis (LCA), a rare inherited condition that impedes the eye's ability to produce a vital protein for sight.
Saffie was diagnosed with LCA at the age of five, a condition that caused her difficulties seeing in low light. Following diagnostic tests at Moorfields Eye Hospital in London, she received the treatment at Great Ormond Street Hospital (GOSH). Researchers from GOSH and University College London (UCL) have noted that administering this therapy to younger children, such as Saffie, appears to enhance the function of visual pathways and bolster sight during a crucial period of brain development. Her peripheral vision in daylight has also reportedly improved.
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The treatment, Voretigene Neparvovec, is the first of its kind for a specific genetic cause of LCA, stemming from a mutation in the RPE65 gene. Saffie's parents have described the results as "incredible," noting her ability to engage in activities typical for her age, like climbing. Prior to this gene therapy, Saffie was already using glasses for short-sightedness, diagnosed at age two. The therapy was administered in two stages: the first eye in April last year, and the second in September.
