Gene Therapy Safety Trial Successfully Treats Common Form of Inherited Blindness

RandomFactor writes:

A clinical trial designed to test safety has been successful in stopping, and even reversing, visual degeneration associated with mutations in the gene RPGR (Retinitis Pigmentosa GTPase Regulator).

This month, K.L. became one of the first patients to receive a new experimental gene therapy for children with a severe form of inherited vision loss. The treatment, currently not yet named, targets young men who are susceptible to a particularly vicious genetic disorder that gradually destroys the light-sensing portion of their eyes.

Within a month following a single injection, "my vision was beginning to return in the treated eye. The sharpness and depth of colors I was slowly beginning to see were so clear and attractive," said K.L.

The treatment targets the difficult condition which leaves most affected legally blind by the age of 20, and yielded improvements in participant vision in as little as two weeks following treatment.

It is based on the gene therapy 'Luxturna' introduced in 2017, but which is only able to help one out of 80 afflicted with inherited RP (Retinitis Pigmentosa) related vision degradation.

Unfortunately, the RPGR gene also happens to be quite temperamental and prone to genetic shifts that cause disease. It makes the gene a terrible test subject in the lab, where it tends to be unstable and difficult to work with.

After years of wrangling in animal models, however, the Oxford team was able to increase its "stability and fidelity," so much so that when given to animal models with retinal disease, the stabilized, healthy version was able to restore visual properties.

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