Two Sydney siblings have become the first patients in Australia to receive a novel gene therapy that has rescued their vision and holds hope for preventing them from going blind.
The ocular gene therapy, Novartis' LUXTURNA, is the world’s first approved gene replacement therapy for an inherited blinding eye condition and one of the first gene replacements for any human disease.
The therapy is TGA approved for children and adults with biallelic pathological mutations in RPE65, a rare mutation that leads to vision loss and blindness.
Seventeen-year-old Rylee and 15-year-old Saman were both diagnosed with Leber congenital amaurosis, a severe form of retinal dystrophy, in their first year of life.
They were administered LUXTURNA at The Children’s Hospital at Westmead in late 2020 and early 2021.
The therapy has stopped their progressive vision loss and led to some improvements in their vision.
The therapy was delivered as part of Ocular Gene and Cell Therapies Australia (OGCTA), a new collaboration involving the Genetic Eye Clinic at Sydney Children’s Hospitals Network (SCHN), the Eye Genetics Research Unit and Stem Cell Medicine Group at the Children’s Medical Research Institute (CMRI), and the Save Sight Institute at Sydney Eye Hospital and University of Sydney.
Professor Robyn Jamieson said the therapy was revolutionary and would lead to the transformation of care for patients with blinding eye diseases.
“Inherited retinal disease is a devastating diagnosis. Up until now, these patients suffered progressive vision loss that led to blindness and there was no therapy for them at all,” said Professor Jamieson.
“But through new genomic diagnostics and the use of ocular gene therapy, we are finding that we have the ability to not only stop this ongoing progression but also help to improve vision for people who have RPE65- related retinal vision loss.”
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, loss of sharpness or clarity of vision and potentially total blindness.
LUXTURNA is injected under the retina and carrying a functioning RPE65 gene to replace the faulty one, thereby preventing some of these devastating symptoms.
“The real-world improvements in visual function has been quite remarkable bringing to life the rather dry clinical trials outcome measures. It is tremendously heartening to see the changes in vision capabilities for these first patients treated with LUXTURNA," said Professor John Grigg.
“As an ophthalmologist who has been caring for patients with Leber’s amaurosis for many years and unable to offer any treatment, it is incredibly rewarding to now have the opportunity to not only give families hope but also be involved in improving their child’s vision."