TGA approves gene therapy to treat retinal disease

The Therapeutic Goods Administration (TGA) has registered Novartis’s LUXTURNA (voretigene neparvovec), the first gene therapy in Australia, for the treatment of patients with inherited retinal dystrophy caused by pathological biallelic RPE65 mutations and who have sufficient viable retinal cells as determined by the treating physician.

Children and adults born with a mutation in both copies of the RPE65 gene can suffer from a range of symptoms, including night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision and loss of sharpness or clarity of vision. Many patients born with a mutation in both copies of the RPE65 gene will go blind by the time they are 16, with the majority progressing to total blindness by their mid-thirties.

LUXTURNA is designed to be injected under the retina and carries a functioning RPE65 gene to replace the faulty one. By providing a working copy of the gene, LUXTURNA has the potential to restore vision and improve sight with a sustained effect. The TGA’s decision to register the therapy is based on data from a Phase 1 clinical trial, its follow-up trial and the first randomised, controlled Phase 3 gene therapy trial for an inherited disease.

In the Phase 3 clinical trial, vision improvement was recorded as early as 30 days after treatment. At one year, compared with the control group, patients treated with LUXTURNA improved by 1.6 light levels on the binocular multi-luminance mobility test (MLMT), the trial’s novel, patient-centric, primary endpoint. Vision improved by one or more light levels for 90% of patients treated with LUXTURNA, and 65% were able to successfully navigate the MLMT at the lowest light level of 1 lux at one year.

“LUXTURNA is the first gene replacement therapy for blinding eye conditions and one of the first gene replacements for any human disease,” said Professor John Grigg from the Save Sight Institute, The University of Sydney.

“This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them. Although this treatment is for a rare genetic form of retinal dystrophy, this therapy will be the first of many providing hope and treatment for many people.”

“This is groundbreaking news in Australia; the first eye gene therapy soon to be available for clinical use,” added Professor Robyn Jamieson from the Children’s Medical Research Institute and The University of Sydney.

“It is a revolutionary change for people with genetic retinal disorders like retinitis pigmentosa, because it provides real hope for therapies for this whole group of conditions.”

Image credit: ©stock.adobe.com/au/Yuganov Konstantin

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