Gene therapy helps teens see first star
Picture credit: ABC News, Brendan Esposito
Twelve months ago, siblings 17-year-old Rylee and 15-year-old Saman had never seen a star. That was until a radical gene therapy changed their lives.
Rylee and Saman were both diagnosed with Leber congenital amaurosis, a severe form of retinal dystrophy, in their first year of life. The inherited eye condition is caused by biallelic pathological mutations in the RPE65 gene and leads to progressive vision loss and blindness.
Previously there was no effective treatment available. However recently an ocular gene therapy, known as LUXTURNA, has helped to restore hope as well as some of Rylee and Saman's vision.
Approved by the Therapeutic Goods Administration, 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.
In late 2020 and early 2021, Rylee and Saman became the first people in Australia to receive the life-changing therapy. The therapy has not only stopped their progressive loss but has also led to some improvements in their vision.
"Knowing I was going to be the first person to receive this therapy, I was a bit nervous. I was thinking 'what if it doesn't work?' but I am so grateful I got it. It has changed by life," Rylee said.
"Before I thought the night sky was just black, I didn't know there were all these other colours and then I saw my first star and that was fantastic. I spend all my time at night outside now, looking at the sky."
"Twenty years ago, treatment like this was unheard of, there were no options for people like me and my brother. It just shows how far and fast science can go."
The therapy was delivered at The Children's Hospital at Westmead 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, Head of the Eye Genetics Research Unit at SCHN and CMRI, lead of OGCTA and Head, Specialty of Genomic Medicine, University of Sydney, 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.
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.
“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.
Professor John Grigg, Head of Specialty of Ophthalmology, Save Sight Institute, University of Sydney and lead inherited retinal disease specialist in OGTCA said the therapy has led to real-world improvements in visual function and provides immense hope for 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.
To date, this therapy 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.