Rapid advances in gene therapy are offering new hope to people facing blindness from untreatable eye diseases.

Scientists and researchers at Melbourne’s Centre for Eye Research Australia (CERA) are developing new gene therapy treatments to prevent blindness, and to give patients early access to these cutting-edge treatments via clinical trials.

“Less than a decade ago, someone with an inherited retinal disease (IRD), or a condition like dry age macular degeneration or even glaucoma that is not responding to the conventional treatments, would be told there was nothing that could be done for their condition,’’ CERA Managing Director, Professor Keith Martin, said.

“But now gene therapies are offering real prospects of saving – and even restoring sight.’’

The potential of gene therapy

Professor Martin says gene therapies are among the fastest emerging areas of research in the fight against blindness.

It aims to correct genetic mistakes that cause vision loss by replacing damaged genes with correct copies, which are delivered to the eye via a safe modified virus.

In Australia, the world’s first approved ocular gene therapy, ‘Luxturna’, has already been used to treat patients with a rare form of retinitis pigmentosa, showing the enormous potential gene therapy research has to provide treatments for other forms of IRD.

Globally, there are about 40 clinical trials underway to develop more gene therapy treatments which could be approved for human use.

“It’s an exciting time for patients, clinicians and scientists,’’ said Professor Martin. “At CERA, a number our teams, including my own, are involved in pre-clinical work to develop new gene therapy treatments.

“Our clinical researchers are also partnering with industry sponsors to trial potential new treatments.’’

In May last year, CERA’s Retinal Gene Therapy researchers joined forces with surgeons from the Royal Victorian Eye and Ear Hospital to deliver Australia’s first clinical trial of an investigational gene therapy for dry AMD.

They are also in discussions to bring trials of several other gene therapy trials to Australia, giving patients early access to potentially sight-saving treatments.

Focus on the future

Professor Martin said Australia has a unique opportunity to lead the world in preventing blindness through gene therapy research.

“We have the expertise to deliver them, but we need to expand our clinical research facilities to keep up with the rapidly evolving pace of scientific discovery,” Professor Martin said.

There is strong demand from Australians with eye disease to take part in clinical trials – and those at greatest risk of blindness are often prepared to travel overseas rather than wait for local trials.

“We have heard of families of young people with IRDs who are prepared to mortgage their homes so their children can take part in trials overseas. This creates an enormous financial burden and is not even an option for many families,’’ he said.

“Our vision is to create a clinical research centre that will capitalise on the great expertise we have here at CERA, in our hospitals, universities and Australia’s wider medical research community.

“We want to make these pioneering therapies available to as many patients as possible and transform lives of people with vision loss and blindness.”

CERA: a global leader in medical research 

At CERA, Professor Martin leads a team of researchers dedicated to understanding what causes eye disease, improving diagnosis to prevent vision loss and, ultimately, developing cures to restore lost sight.

An independent medical research institute, CERA is affiliated with the University of Melbourne and Royal Victorian Eye and Ear Hospital and consistently ranks in the world top four for academic output in ophthalmology.

It has a unique mix of scientific talent – from discovery scientists conducting pre-clinical research in the lab to clinician-researchers observing volunteers in natural history studies or testing new therapies in clinical trials.

“This gives us a great opportunity to do transformational research that can make a real difference for people with vision loss,’’ Professor Martin said.

For more information about CERA, click here.

This organisation is supported by trusts managed by Equity Trustees