Researchers from the Centre for Eye Research Australia and University of Melbourne are encouraging Australians with inherited retinal diseases (IRDs) to share their views on potential gene therapy treatments as part of a world-first survey.

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 therapy treatments.

Parents and guardians of children with inherited retinal diseases are also being encouraged to take part 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,’’ says Associate Professor Mack.

“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.’’

Associate Professor Mack points to the recent approval of the gene therapy Luxturna by Australia’s Therapeutics Goods Administration as just one example of treatments that are on the horizon for Australians.

The treatment, which targets the very rare RPE65 gene mutation, is expected to be available to Australians within months.

As research in Australia and around the world progresses at a rapid pace, it is anticipated that treatments for many different types of IRDs will be developed and become available  in the coming years.

Patient surveys

The study will be delivered in an online survey available on the CERA website, with hard copy versions available to people who request them. It is also possible for participants to dictate their answers to a researcher over the phone.

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,’’ says Associate Professor Mack.

She says 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.

About Inherited retinal diseases

Inherited retinal disease is an over-arching term for eye diseases that occur when ‘mistakes’ in various genes stop retinal cells from functioning properly, leading to vision loss and blindness.

They are the leading cause of blindness in working age adults and are thought to affect more than 16, 500 Australians.

Defects in more than 300 genes are known to be associated with IRDs. Gene therapies aim to fix them by introducing correct copies of the gene back into the eye.

Some emerging therapies also aim to introduce genes which can protect cells from degeneration and disease, or use CRISPR specialised enzymes to repair damaged genes.

Take the survey

The survey officially launches 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 to take part.

Links will also be distributed by eye doctors and organisations including the Australian Inherited Retinal Disease Registry and DNA Bank, Retina Australia, Cure Blindness Australia, Usher Kids Australia and Vision Australia.

CERA is grateful to the support of Retina Australia which has supported the research through its 2021 grants program.

To get more information about the study and take the survey visit https://www.cera.org.au/ird-survey/