First patient receives ground-breaking treatment
In January 23-year-old Jake Ternent became the first person with an inherited sight loss condition to be treated in the UK with Luxturna (voretigene neparvovec) for Leber congenital amaurosis (LCA).
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Early results from clinical testing of a gene therapy to treat X-linked retinitis pigmentosa (XLRP) have shown partial reversal of sight loss in some patients.
As Luxturna reaches the clinic and other gene-specific therapies for inherited retinal disease get closer to the end of the development pipeline, it is becoming ever more important that affected families can access a genetic diagnosis, potentially opening up choices around treatment and clinical trial participation.