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Race to identify inherited retinal disease patients for gene therapies  

Australian researchers are using genetic testing to identify as many people as possible with inherited retinal disease (IRD), in preparation for an influx of life-changing gene and stem cell therapies expected over the next decade.

The IRD Natural History project is a new collaboration between the Centre for Eye Research Australia (CERA) and the University of Melbourne (UniMelb), which aims to create a clinical database of Australians suitable for an IRD treatment.

Dr Lauren Ayton, a senior research fellow at UniMelb, is leading the study with CERA’s Dr Thomas Edwards. She said historically there were limited treatment options for people with IRD. To some extent, this led to them “falling off the radar” because they were often not reviewed regularly by eyecare practitioners.

However, recent advances, including approval of the first ever direct-to-human gene therapy Luxturna and emerging technologies such as stem cells, gene editing (CRISPR) and pharmaceuticals, meant it was important to identify patients who may benefit once they such therapies become available.

At the same time, Ayton says it is vital to learn more about the natural history of IRDs to determine whether the new treatments are effective.

“Luxturna has very recently been approved for use in Australia by the Therapeutic Goods Administration, after an outstanding advocacy campaign by clinicians, researchers and the IRD community,” she said.

The IRD Natural History project is a new collaboration between the Centre for Eye Research Australia and the University of Melbourne.

“We really do see this as ‘opening the floodgates’. The success of Luxturna has encouraged other academic and industry projects, and there are over 20 international clinical trials of IRD gene therapy under way at present. It is very likely that we will see a number of gene therapy treatments approved in the next 10 years, for different types of IRDs.”

There are an estimated 16,500 Australians currently living with an IRD. According to  Ayton, one of the most challenging aspects of diagnosis is that many IRD subtypes look similar clinically.

For example, she said ‘retinitis pigmentosa’ is often referred to, but is really an umbrella term for many different types of disease.

“There are over 300 known IRD genes, and it is essential that an individual’s genetic mutation is known for many of the new treatments, as well as for family planning and clinical care. The race is now on to perform genetic testing on as many people with IRD as possible, in preparation for the rollout of new therapies,” she said.

The study is seeking participants with any known IRD. These people, or their clinicians, can be referred via the CERA website or by emailing IRD@groups.unimelb.edu.au.

As part of the study, people with an IRD will receive a comprehensive eye examination and access to research-grade genetic testing. The study is funded by several government and philanthropic grants, including an NHMRC Investigator Grant to Ayton and support from the CASS Foundation and the Angior Family Foundation.

Genetic testing can also be accessed through some ophthalmologists, at specialist eye hospital clinics (such as the Ocular Genetics Clinic at the Royal Victorian Eye and Ear Hospital), or through the Australian Inherited Retinal Disease Register (www.scgh.health.wa.gov.au/Research/DNA-Bank).

The IRD Natural History project will also work with colleagues at other ophthalmology research centres, including the Lions Eye Institute in Perth and Save Sight Institute in Sydney, and the Australian Inherited Retinal Disease Register DNA bank.

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