With a wave of new genetic treatments for inherited retinal diseases (IRDs) on the horizon, CERA’s VENTURE study is ensuring Victorians are well-placed to join new clinical trials.

At the same time, VENTURE participants are helping researchers to understand how different IRDs progress, how they affect families, and how they are linked with other physical issues.

Their contributions are now part of an international effort.

In 2023, CERA joined more than 40 research centres in the international Foundation Flighting Blindness Clinical Consortium, which will provide new opportunities for research and clinical trials.

The consortium runs several programs, including the newly launched Universal Rare Gene Study (Uni-Rare), which is investigating rarer IRDs that may affect only a few hundred people worldwide.

VENTURE participants will have the option to take part in the Uni-Rare initiative, which will combine international data to learn more about these extra-rare genes.

“We’re currently the only Australian research institute in the Foundation Fighting Blindness Clinical Consortium and are very excited to work with our international counterparts on learning more about these rarer IRDs,” says Associate Professor Lauren Ayton, who co-leads VENTURE with Dr Tom Edwards from CERA’s Retinal Gene Therapy Unit.

Since its launch in 2019, almost 320 Victorians have joined VENTURE.

The registry is a collaboration between CERA and the University of Melbourne, supported by the National Health and Medical Research Council, Retina Australia, the CASS Foundation and the Choroideremia Research Foundation (USA).

The team includes over 20 multidisciplinary researchers and clinicians contributing to the program.

An estimated 19,000 people in Australia have an IRD – a group of genetic conditions that cause vision loss and blindness.

Associate Professor Ayton says the genetic mutations that cause IRDs can occur in any one of more than 300 genes that contribute to vision.

“By identifying the specific genes involved we can really pinpoint what’s gone wrong in the DNA,” she explains.

“And this opens opportunities for very targeted therapies.”

Genetic findings

Associate Professor Ayton says about two-thirds of people on the VENTURE database have had genetic tests to pinpoint which of their genes carry IRD-related mutations.

As a result, some people have discovered they have syndromes that they weren’t aware of.

In most cases, there is no current treatment for the IRDs involved, but in one case the tests revealed Refsum disease, which can be slowed with changes to diet.

“The finding connected the dots with other symptoms,” says Associate Professor Ayton.

“They did have some malformation of their toe joints, for example, which is typical of Refsum disease.

“But no ophthalmologist ever asks to see your toes.”

Associate Professor Ayton says this points to the power of genetic testing for people with IRDs, and the value of the counselling offered to all those who do these tests as part of the registry process.

Under the leadership of Dr Ceecee Britten-Jones, the VENTURE program is now also expanding genetic testing to try to solve more complicated cases, using newer technologies such as whole genome sequencing.

“I’m hopeful we can improve clinical trials and get more treatments underway for patients in Australia living with IRD”, says Associate Professor Ayton.

This story was originally published in People in focus: Annual Review 2023.