Gene Therapy Aims At Stopping Blindness

Advances in gene therapy are finally yielding new options that are revolutionizing the treatment of inherited retinal degenerations.

Kellogg Eye Center has begun treating patients with a new gene therapy for children and adults with inherited forms of vision loss.

The therapy is called Luxturna, and was approved by the U.S. Food and Drug Administration in late 2017 as the first therapy available to treat a genetic disorder.

According to a University of Michigan Health Lab article, About 1,000 people in the United States have inherited retinal diseases related to the RPE65 gene. People with RPE65 mutations can begin to experience losses of vision in their infancy, including the loss of peripheral vision and night vision.

This one time treatment is two hours long and involves using a hair thin needle that injects the drug directly under the retina. 

And an 80-year-old woman, Janet Osborne, from the United Kingdom was the first patient to undergo gene therapy to halt age-related macular degeneration (AMD). AMD is the most common cause of sight loss in the world.

According to Gizmodo, "Doctors detached the retina of her left eye and injected a solution with a synthetic virus underneath (Osborne’s right eye was not treated, as this was an experimental procedure). The virus contained a modified DNA sequence that is intended to repair the genetic defect responsible for AMD, a known hereditary condition. The idea behind the procedure is that the virus will infect specific retinal cells, delivering the DNA sequence as it does so. 

Once the virus is at work inside a retinal cell, it releases the synthetic DNA and the cell starts making a protein that Doctors believe can modify the disease, correcting the imbalance of the inflammation caused by the complement system. The complement system is a system of proteins that fights bacteria, but in macular degeneration, this part of the immune system becomes overactive and wrongly attacks retinal cells. The point of the new gene therapy is to shut down the complement system, but at a very specific point at the back of the eye, so the patient would otherwise be unaffected by it, and Doctors hope that in future it will slow down the progression of macular degeneration."

It is still too early to tell if the gene therapy halted the deterioration in Osborne’s left eye. She will be monitored carefully over the following months.

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