In an Australian first, two siblings from Sydney, New South Wales, have received the novel ocular gene therapy, Luxturna to treat Leber congenital amaurosis, a severe form of retinal dystrophy.
Sydney ophthalmologist, Professor John Grigg said the extremely delicate surgical procedure performed in late 2020 and early 2021, has delivered “profound improvements in their vision”, mirroring results seen in the pivotal clinical trials. Professor Frank Martin said the outcomes provide hope for over 15,000 Australians who live with some form of inherited retinal disease.
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
Seventeen-year-old Rylee and 15-year-old Saman were both diagnosed with Leber congenital amaurosis in their first year of life. Having received the life-changing therapy at The Children’s Hospital at Westmead, their progressive vision loss has stopped and they have experienced some improvements in their vision.
Luxturna (distributed in Australia by Novartis) has been approved by the Therapeutic Goods Administration to treat children and adults with biallelic pathological mutations in RPE65. Those born with this rare 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.
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.
CMRI was represented on this project by Professor Frank Martin who is CMRI’s Board President, Professor Robyn Jamieson who is Head of the Eye Genetics Research Unit at CMRI and SCHN and Dr Anai Gonzalez Cordero who is Head of the Stem Cell Medicine Group.
Professor Jamieson is also lead of OGCTA and Head, Specialty of Genomic Medicine, University of Sydney. She said the therapy was revolutionary and would lead to 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,” Professor Jamieson said.
“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.”
Ocular gene therapy works by injecting Luxturna 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, Professor John Grigg, Head of Specialty of Ophthalmology, Save Sight Institute, University of Sydney and lead inherited retinal disease specialist in OGTCA said.
“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,” Frank Martin, Clinical Professor in the Specialties of Paediatrics and Child Health and Ophthalmology at the University of Sydney said.
Associate Professor Matthew Simunovic, Vitreoretinal Surgeon, Sydney Eye Hospital and SCHN and Associate Professor at the Save Sight Institute, University of Sydney performed the first surgery and said the benefits of treatment should extend well into the future.
“This is incredibly delicate surgery in which Luxturna is injected under the retina, which in some patients can be as thin as a sheet of copy paper. Riley and Saman have had profound improvements in their vision, which mirror the results seen in the pivotal clinical trials. Importantly, such benefits appear to be sustained for many years – in fact, for as long as patients have been followed up. Successfully delivering the first approved gene therapy has been a fantastic team effort, and it underscores Australia’s capability in this field” A/Prof. Simunovic said.
To date, this treatment has been used to treat four patients and while it can only be used to treat this specific form of retinal disease, it does provide significant hope that similar treatments will be able to be applied to other retinal disease genes in the future.
“This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them and provides hope for more than 15,000 other affected Australians who live with some form of inherited retinal disease,” Professor Grigg said.
Click image below to watch surgical procedure.
Caption for hero image: From left: Prof John Grigg, Prof Robyn Jamieson, Dr Gaurav Bhardwaj, A/Prof Matthew Simunovic, Nicole Johnston (Novartis), Ajit Viswalingam (Novartis), Sonja Nikolic (Novartis)