Researchers from the Centre for Eye Research Australia and University of Melbourne have developed a world-first survey to gather the views of Australians with inherited retinal diseases (IRDs) on potential gene therapies.
The study, led by CERA Honorary Researcher Associate Professor Heather Mack, aims to help eye doctors and researchers understand the support and information patients will need to navigate the complex and rapidly evolving field of gene therapies.
Parents and guardians of children with inherited retinal diseases are also being encouraged to participate in the study.
“As recently as five years ago, someone diagnosed with an inherited retinal disease would have been told that progressive, irreversible vision loss was inevitable,’’ Mack said.
“But rapid advances in gene therapy are creating exciting possibilities that there will be treatments that will slow down vision loss, or possibly even restore lost sight.’’
The most notable of these has been Luxturna, which the Australia’s Therapeutics Goods Administration approved last August. The treatment, which targets the rare RPE65 gene mutation, is the subject of an application to the Medicare Services Advisory Committee and is expected to be available to Australians within months.
IRDs are thought to affect more than 16,500 Australians, with defects in more than 300 genes known to be associated.
As research in Australia and around the world progresses, it’s anticipated treatments for many forms of IRDs will be developed and become available soon. There are more than 20 international clinical trials of IRD gene therapy under way.
Mack’s online survey will be accessible on the CERA website, with hard copy versions available. It is also possible for participants to dictate their answers to a researcher over the phone.
According to CERA, the survey will gauge respondents’ understanding of the potential of gene therapies, seek their views on issues like genetic testing, treatment costs and clinical trial participation.
It is believed to be the first time in the world that researchers have sought views from the IRD community on government-approved gene therapy treatments.
“Knowing how well people with IRDs understand the potential of gene therapy, their expectations and the support and information they need is critical to helping them make informed decisions about participating in treatment or research in the future,’’ Mack said.
She said survey results could inform clinician training – ensuring they are providing accurate and up-to-date information to patients – and also be valuable resource for regulatory agencies and others providing information about gene therapy.
Accessing the survey
The survey launched on 27 January and will be open for three months. Australians diagnosed with an IRD or the parents and guardians of children with an IRD are eligible.
Links will also be distributed by ophthalmologists and organisations including the Australian Inherited Retinal Disease Registry and DNA Bank, Retina Australia, Cure Blindness Australia, Usher Kids Australia and Vision Australia.
Retina Australia has supported the research through its 2021 grants program. To get more information about the study and take the survey visit this website.