New study finds patients with genetic eye conditions want education on new therapies

A new study, led by the Centre for Eye Research Australia and the University of Melbourne, has found that Australians with inherited retinal disease (IRD) have a strong interest in undergoing gene therapy to prevent and treat blindness – but there’s a critical need for education programs to help them make informed choices about future treatments.

Nicole Tindill, Dr Myra McGuinness, Associate Professor Heather Mack, Dr Cee Cee Britten-Jones and Associate Professor Lauren Ayton. (L-R): Nicole Tindill, Dr Myra McGuinness, Associate Professor Heather Mack, Dr Cee Cee Britten-Jones and Associate Professor Lauren Ayton.

The study reveals the results of the first national survey asking Australians living with IRD and their carers about their knowledge and views on gene therapy.

IRD is the umbrella term for a broad group of genetic eye conditions, including retinitis pigmentosa and Stargardt’s disease, that cause progressive vision loss and blindness. They are the most common cause of blindness in working-age Australians, affecting more than 13,000 people nationally.

Led by Associate Professor Heather Mack, Department of Surgery (Ophthalmology), and Associate Professor Lauren Ayton, Melbourne School of Health Sciences, the study provides new insight into patients’ knowledge of emerging gene therapies, the methods used, their willingness undergo future treatments and their views on the potential costs and logistics.

“Until recently, someone diagnosed with an IRD would be told their condition was incurable and would be advised to prepare for a life of progressive, irreversible vision loss,” said Associate Professor Ayton.

“But rapid advances in gene therapy are enabling us to potentially discover treatments that can stall, or even reverse vision loss. There is now an approved gene therapy for a rare form of retinitis pigmentosa and there are multiple clinical trials of gene therapies for other genetic eye conditions underway around the world.”

“It’s essential that patients have the information they need to make informed choices in the future.”

An estimated five per cent of Australians with IRD, almost 700 people, completed the survey. Key findings included:

  • 92 per cent of respondents said that they would be interested in having a gene therapy if one became available for their condition in the future.
  • Less than a third (28 per cent) of respondents said that they had a good understanding of gene therapies.
  • More respondents (49 per cent) got their information about gene therapy from the Internet instead of their ophthalmologist (37.9 per cent).
  • 60 per cent of respondents identified one or more barriers to receiving gene therapy including out-of-pocket costs (30.5 per cent), or fear of side effects (27 per cent).
  • 79 per cent of respondents said that a government subsidy for gene therapy would be a good use of taxpayer money, but less than half believed the government or private health insurance should pay all the costs.
  • More than three-quarters of respondents (77 per cent) would travel interstate for treatment.

Associate Professor Mack said the findings demonstrated the need for continuing targeted education about the outcomes and risks of gene therapy and the difference between clinical research and approved treatments.

“Education of both patients and eye care professionals will be critical to fill knowledge gaps and a lack of confidence in understanding treatment options,’’ she said.

“This will require continually evolving education of both potential recipients of gene therapy and eye care providers as new technologies and treatments are rolled out.’’

Read the study:

Mack, H et al. (2022) Survey of perspectives of people with inherited retinal diseases on ocular gene therapy in Australia. Gene Therapy

You can read the article published on Eye Research Australia here.