Revolutionary treatment for childhood onset blindness

A cutting-edge treatment for Leber congenital amaurosis (LCA) will offer hope for the tens of thousands destined to lose their sight from the disease in childhood.

The DNA-splicing therapy was discovered as part of a joint research project between Moorfields Eye Hospital and University College London’s Institute of Ophthalmology, with funding from charities Fight for Sight and Guide Dogs.

University College London ocular biologist, Professor Pete Coffey, told OT that one in four people with LCA have a fault in the gene CEP290. This fault, which causes its corresponding protein to be abnormally short, disproportionately affects the eye.

“[The fault] is expressed in many, many cells, but only when it is expressed in the eye does it cause a disease. That was quite a finding,” he emphasised.

He said that, when working normally this protein helps to move chemicals from the body of a cell to its ‘tips’ – when it is not working properly, these cells die.

In order to understand what was happening in the eye, Professor Coffey and his team took a sample of skin from LCA patients. In their boundary-pushing research, they were then able to revert skin cells back into a pluripotent stem cell state, and then transform them into ‘mini-retinas.’

Not only was the team able to understand the disease better, it was able to successfully test a treatment that restored normal DNA splicing and, therefore, most of the CEP290 protein’s length, he added.

Professor Coffey explained: “They’re not getting as much, but enough to restore the traffic from the body to the tip of the cell – enough for [the protein] to be useful.”

He said the next step for the research would be to create an injectable therapeutic based on their treatment technique for a clinical trial, to see if it can save the remaining photoreceptors in LCA patients.

He emphasised that the results so far are very exciting, adding: “In your career, you hope to make a difference, and something like this could have a big impact.”