Centre for Eye Research Australia senior researcher and unit manager FLEUR O’HARE shares how potential treatments for incurable rare inherited retinal diseases are closer than ever before.
The Retinal Gene Therapy Unit at the Centre for Eye Research Australia, in collaboration with the Eye and Ear Hospital in East Melbourne and the University of Melbourne, are poised to expand our portfolio of retinal gene therapy trials.
With a significant number of clinical trials underway for inherited retinal diseases (IRDs) internationally, research institutes across Australia are now being tapped on the shoulder to be involved at an ever-increasing rate.
The biggest challenge is finding people with the specific gene variants for a particular therapy.
Part of my role is to select the clinical trials that show the greatest promise, engage with stakeholders, and work to get the trials off the ground locally. The biggest challenge for us is finding people with the specific gene variants for a particular therapy.
IRDs, which are caused by at least one faulty gene, are the largest cause of legal blindness in working-aged Australians, affecting up to 1 in 3,000 individuals.
There are now more than 300 known genes linked with IRD, and this number is increasing with gains in our understanding and gene discovery.
Historically, genetic testing has not been offered routinely to people with IRDs, owing to the fact there was no known cure for their disease.
Now, with the advent of improved genetic testing technologies and the growing number of retinal gene therapy clinical trials on the horizon, the desire to have genetic testing is growing in this patient population.
There is now also a high chance of being able to identify the gene change associated with a person’s IRD through genetic testing. From there, it can be determined if they might be suitable for upcoming clinical trials.
Knowing this genetic information allows researchers to help identify and inform people about clinical trials targeting their specific retinal disease, and also provide more nuanced prognoses.
Much of my research over the years has focused on understanding the characteristics of individual IRDs and learning more about genotype-phenotype correlations.
This has helped us to better understand how these diseases differ in their onset, symptoms, disease pattern and rate of progression.
Our observational and longitudinal research work, namely the VENTURE study (Victorian Evolution of Inherited Retinal Diseases Natural History Registry), has also been incredibly helpful in preparing for this era of retinal gene therapy by identifying the people who might be able to benefit from new treatments.
We now have a better understanding of the course and journey of some of these retinal degenerative diseases, which helps us to understand how retinal gene therapy might work in changing the course of these diseases over time.
I am also passionate about ensuring people who consider being involved in clinical trials are fully informed about the benefit-to-risk ratio for these therapies, and orthoptists have a key role in patient education and managing the expectations around the potential results.
We also have a pivotal role in monitoring safety and efficacy using multimodal tools (i.e. retinal imaging and retinal sensitivity measures).
Ultimately, there are no guarantees with participating in experimental research. However, the future looks promising for retinal gene therapy and other IRD treatments. It is giving hope to over 15,000 people in Australia affected with these devastating conditions.
If you would like to get in contact with CERA’s IRD team to learn more about its research, email eyestudy@cera.org.au
ABOUT THE AUTHOR: Fleur O’Hare is the Unit Manager of the Retinal Gene Therapy Unit at the Centre for Eye Research Australia. An orthoptist with over 20 years of clinical and academic experience, she has completed post-graduate studies in research, genetics and health promotion. She is passionate about enhancing support, education and advocacy needs of individuals with inherited retinal disease and their families.
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