Glaucoma is described as the “silent thief of sight” and affects half a million people in Ireland. It can lead to loss of vision if not diagnosed and treated early.
The team in Trinity College Dublin offer hope to people with the progressive debilitating eye condition
It is not possible to reverse any loss of vision that occurred before glaucoma was diagnosed, but treatment including eye drops, laser procedures and surgery can help stop sight getting worse.
The scientists in Trinity found their work on gene therapy led to significant benefit in animal models, and in human cells derived from people with glaucoma.
The therapy protected key “retinal ganglion cells” (RGCs) that are important in vision and improved their function in an animal model of glaucoma.
In human retinal cells, delivery of the gene therapy increased oxygen consumption and production of adenosine triphosphate (ATP), a source of energy, indicating enhanced cell performance, the research published in the International Journal of Molecular Genetics said.
First author Dr Sophia Millington-Ward, research fellow in Trinity’s School of Genetics and Microbiology, said: “Glaucoma is a complex group of optic neuropathies and a leading cause of blindness.
“In Europe, roughly one in 30 people aged between 40 and 80 years have glaucoma, and that rises to one in 10 in people over 90, so this is a really common condition that badly needs new treatment options.
“It is a multifactorial condition with many different risk factors, which adds to the complexity of treating it.
“Current glaucoma treatments focus on the use of topical eye drops, surgery or laser therapy. However, the outcomes are variable, with some patients not responding or suffering serious side effects.
“The need for better treatment options has inspired and motivated us to continue developing gene therapies, and we are delighted with the promise it is showing.”
The new gene therapy uses an approved virus to deliver an enhanced gene (eNdi1) developed by the Trinity team.
The therapy was designed with the aim of boosting mitochondrial activity – mitochondria are “cellular energy generators” responsible for ATP production – and reducing damaging reactive oxygen species.
Jane Farrar, research professor in Trinity’s School of Genetics and Microbiology, is the senior author of the research article.
She said that developing broadly applicable gene therapies for large numbers of patients is particularly important, given high development costs associated with each therapy – “and here we have highlighted this therapy has real potential for boosting mitochondrial function in glaucoma”.
The researchers said that the next focus is translation of the studies towards the clinic and patients, while involving many additional steps.
The same team previously showed their therapy offered promise in treating dry age-related macular degeneration (AMD).
And the Trinity team was also recently involved in founding Vzarii Therapeutics to speed up the future development of the dry AMD and glaucoma gene therapies towards human clinical trials.
