Safe and effective treatments and more psychological support are top priorities for individuals impacted by an inherited retinal disease, a new report shows.
Australians living with an inherited retinal disease (IRD), caregivers, researchers and health professionals gathered at NSW Parliament House on World Retina Day, on Tuesday September 24, 2024, to launch .
IRDs are a broad, but rare, range of diseases associated with abnormalities or degeneration of retinal cells in the eye, leading to vision impairment.
One in every 1,000 Australians are estimated to be affected by an IRD, which are the leading cause of blindness for working-age adults and the second most common cause of blindness in children. They are inherited, as the name suggests, and are largely untreatable.
The priorities are the result of the IRD Priority Setting Partnership, an 18-month endeavour which brought research experts, community organisations and individuals with lived experience together for the first time in Australia to set 10 key focus areas to drive more meaningful and impactful research, which will better utilise health dollars.
“These priorities have been set by Australians impacted by an IRD – they are telling us directly where their suffering is and what they need,” said partnership lead Dr Eden Robertson, a research fellow with UNSW Sydney’s School of Clinical Medicine.
“The top priority was to develop treatment to either prevent vision loss or restore vision. But priorities also emphasised the need for improved psychosocial support for individuals diagnosed with an IRD and their families, and the gaps in current health service provisions,” she said.
Those affected by an IRD have few, if any treatment options. Other than gene therapy Luxturna, which was approved in 2020 for one specific type of IRD, there are no clinically available treatments to prevent vision loss or restore vision.
Throughout the Priority Setting Partnership, people with IRD voiced frustrations about the lack of research funding and awareness of the disease – even among health professionals – and the limited information available about treatment and service options.
Dr Robertson said the partnership aimed to better align the often mismatched goals of researchers and those living with health conditions, to accelerate and better target spending on research that has real-life impacts.
“With limited treatment options and an immense disease burden, we needed to better align the goals of researchers and those people with IRD. This work is the critical first step in doing so, which we hope will accelerate more meaningful research that has real-life benefits.”
For researchers, this may be reflecting on how their work aligns with these priorities and adjusting as needed; or for the Australian government, this may involve implementing the first-ever IRD specific grant, Dr Robertson said.
“An IRD isn’t life-ending, but it can be life-limiting without the necessary psychological services and supports in place – which we know do not currently exist. Until treatments are available, more investment to improve the quality of life and wellbeing of individuals with an inherited retinal disease and their families is critical.”
director Emily Shepard, was among those who contributed to the Priority Setting Partnership. Her son has Usher Syndrome, a rare type of IRD, that affects both vision and hearing.
“As a parent, I understand how important research into clinical treatments for IRDs are. It gives us hope that one day this may not be the reality for our loved ones,” Ms Shepard said.
“But it’s not the whole picture - it's just as important for us to be living well and being supported along the way. And that's why I am so grateful that there are priorities dedicated to the psychosocial aspects of living or caring for someone with an IRD.
She hopes to see continued collaboration between researchers and those with lived experience.
“As a united IRD community we can stand before government bodies and say, ‘these are the areas that need backing, these are the areas that the IRD community are currently being let down in and we need your support to improve this’,” Ms Shepard said.
NSW MP Dr Michael Holland, Parliamentary Secretary for Health and Regional Health, was among those who spoke at the launch, noting he believed it marked a turning point for IRD treatment.
“We often refer to the ‘penicillin moments’ – a turning point in health ... I believe that this launch, these priorities, are the penicillin moment for IRD.”
The project was funded by the Australian Medical Research Future Fund (MRFF) Stem Cell Therapies Mission that involved researchers and experts from The University of Sydney, The University of Melbourne, Sydney Children’s Hospital Network, Children’s Medical Research Institute, Murdoch Children’s Research Institute.
The launch event was held with the support of Vision 2020, the national peak body for the eye health and vision care sector, and Parliamentary Friends for Eye Health and Vision Care.