Gene therapy found in trial to be effective in some cases of eye degeneration

A new UK trial has found that gene therapy treatment is an effective way to stall degeneration of the eye and even help improve sight in some cases for those that suffer from choroideremia the eye disease. The story of the trial has been closely followed by the BBC and focuses on one volunteer that entered the study at the age of 63. The man, Jonathan Wyatt, first noticed the degeneration of his sight when he started to have problems at work reading as an arbitration lawyer. Today he is able to read three lines more when he heads into his optician appointment.

According to a news article on the University of Oxford website about the study, the goal of the study is to use gene therapy within the cells of the retina without harming any other areas of the eye. However, they found that after six months the patients started to see improvements in their vision when attempting to read in dim light and two of the six people in the trial were actually able to read better.

Chorioderemia is a genetic disorder that only affects about 50,000 people globally. In most cases the rare disorder only effects men but the prognosis is very definitive. It usually starts in childhood with the individual struggling to see while they are in the dark and then slowly starts to progress to tunnel vision. Eventually the eye sight degenerates enough that the person becomes completely blind.

The disease is the result of a gene mutation of the CHM gene which is responsible for producing the REP-1 protein. This protein controls the movement of proteins within the cells. However, due to the faulty mutation the REP-1 is not produced so cells do not grow properly like they should.