International effort

CERA has joined a worldwide collaboration to ensure rare genetic diseases receive the same attention as more common conditions.


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A new international partnership will provide a major boost for CERA’s inherited retinal disease (IRD) research and help bring more clinical trials for rare eye diseases to Australia.

CERA has joined the Foundation Fighting Blindness Consortium alongside more than 40 other research centres from around the world.

It will be the first Australian research site contributing to Uni-Rare – a global registry of people with extra-rare genes to improve understanding of IRDs and boost the development of potential therapies.

Associate Professor Lauren Ayton and Dr Tom Edwards from CERA’s Retinal Gene Therapy Unit are leading the Australian research.

“Most of the global research is currently focusing on the more common IRDs, such as X-linked retinitis pigmentosa, choroideremia and Stargardt’s disease – as it should be,” says Associate Professor Ayton.

“However, there are still many more people with rarer forms of these diseases that also need treatments.

“We want to make sure these other IRDs are still being researched.”

IRDs are a group of eye conditions caused by a mistake in one or more genes, which leads to damage in the light-sensitive retina at the back of the eye.

Over 300 genes are known to cause IRDs, and while all lead to some level of vision loss each individual disease affects the retina quite differently.

Studying such a large group of conditions is a challenge, especially particularly rare IRDs that may affect less than a few hundred people worldwide.

Associate Professor Ayton is co-leader of the Victorian Evolution of Inherited Retinal Diseases Natural History Registry (VENTURE study) – a collaboration between the CERA and the University of Melbourne.

VENTURE collects data from Australians with IRDs to perform research and identify those who may be eligible for upcoming clinical trials for new treatments.

Now they will also be contributing to a global project.

Greater access

“We’re currently the only Australian research institute in the Foundation Fighting Blindness Consortium and are very excited to work with our international counterparts on learning more about these rarer IRDs,” says Associate Professor Ayton.

Local VENTURE participants will be given the option to anonymously take part in the Uni-Rare global registry if they have an IRD that relates to the study.

“The idea is that all consortium research centres will use the same research methods and pool our data, so we can reach better conclusions,” says Associate Professor Ayton.

As one of the consortium’s 40 Research Centres of Excellence, CERA can also become a site for their future clinical trials.

“That means we have an excellent chance of bringing new treatments for IRD to Australia in a timely manner,” says Associate Professor Ayton.

“The Foundation Fighting Blindness are one of the largest international IRD advocacy and funding groups in the world and have been highly involved in the development of several treatments.

“By sharing information about the different IRDs Australians have, and how common they are, we can help the Foundation decide what IRDs they will target next.”

Improving trials

Through the consortium, Associate Professor Ayton is also helping shape the future of how new treatments will be brought to patients.

“We’re working with the American Food and Drug Administration (FDA) towards developing better ways of measuring the effectiveness of treatments,” she says.

This includes looking for improved ways of imaging the eye and measuring vision to better show how well new treatments works.

The goal is to help future therapies move smoothly through trials as they are tested to make sure they are safe and effective.

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

“That’s something I’m really excited about.”


This article first appeared in Visionary magazine – Spring 2023.

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