Positive data from the first-ever phase 3 trial for an inherited retinal disease (IRD) has been released by US company Spark Therapeutics.
Published in the Lancet, results using the drug voretigene neparvovec demonstrate how a new gene therapy could treat patients with vision loss caused by RPE65 gene mutation.
Mutations in the RPE65 gene are associated with two main types of IRDs, retinitis pigmentosa (RP) and Leber’s Congenital Amaurosis (LCA). The mutation accounts for 2% of people diagnosed with RP, and between 6–16% of those diagnosed with LCA. There are currently no treatments available for either condition.
Trial results showed an improvement in functional vision when people were independently performing visual daily tasks. They also showed improved light sensitivity and visual field, with no serious side effects.
Spark Therapeutics has now submitted an application to the National Institute for Health and Care Excellence (NICE) to enable the therapy to be available on the NHS. NICE is currently consulting on the suggested remit and draft scope, before holding a workshop in September, it was confirmed.