Innovative gene therapy to cure multiple eye diseases

The future treatment of individuals with various eye diseases could benefit immensely from a potential new gene therapy strategy, according to Trinity University researchers.

According to a study in the journal Pharmaceutics, retinal ganglion cells—which are defective in conditions like glaucoma—that have undergone gene therapy had improved mitochondrial efficiency.

The findings support earlier findings from the same group demonstrating improvement in age-related macular degeneration (AMD) models and also highlight the potential benefits of ophNdi1 for a variety of eye diseases.

Because a loss of retinal ganglion cells leads to sight loss in many conditions including inherited optic neuropathies and glaucoma, we are excited that this potential therapeutic approach could provide benefit to many patients in the future.”

Dr Naomi Chadderton, Study First Author and Scientist, School of Genetics and Microbiology, Trinity College Dublin

Dr Chadderton added, “Our study shows that ophNdi1 is protective in three models of mitochondrial dysfunction. Notably, the optimization of the therapy, which is outlined in the study, allows for use of a lower therapeutic dose.”

Since they control energy generation, mitochondria are referred to be the “powerhouses” of the cell. However, scientists have previously shown that the retina of people with eye diseases exhibits a decline in mitochondrial function. They looked at the viability of possible treatments to save frail mitochondria as a result of the connection to a decline in sight.

The gene therapy ophNdi1 employs a virus to enter the sick cells and transmit the necessary instructions to give mitochondria a lifeline, allowing them to continue functioning in support of the vision and generating more energy.

Our work provides clear evidence supporting using this novel gene therapeutic approach for multiple eye disorders. It also suggests that the ophNdi1 therapeutic platform targeting mitochondrial dysfunction could have applications for other devastating conditions beyond the eye in which mitochondrial dysfunction is in play.”

Jane Farrar, Study Senior Author and Professor, School of Genetics and Microbiology, Trinity College Dublin

Before the therapy can be delivered to patients, further study needs to be done, but the research team is optimistic that it will be possible in the future.