Hope for four-year-old’s vision after gene therapy

A boy in Oregon has become the first to receive a new treatment for a rare genetic mutation which has caused him to lose his sight.

Just two weeks after the first procedure, Caspian’s parents began to notice improvements in their son’s vision.

Caspian, aged four, was born with a rare mutation in his RPE65 gene, which produces proteins which are essential for normal vision. The mutation is caused by a condition called Leber’s congenital amaurosis. In Caspian the condition turned his vision dark and blurry, making low-light areas a challenge. Until recently, his parents expected the Leber’s would worsen and eventually cause Caspian to go completely blind.

However, the four-year-old recently became the second patient in the state to undergo the new gene therapy treatment at the OHSU Casey Eye Institute. The treatment, called Luxturna, involves injecting a modified virus into a patient’s eyes to correct the mutation. It was developed by Spark Therapeutics of Philadelphia and it became the first FDA-approved gene therapy for an inherited disease in December. OHSU is one of nine US institutions that currently offer the therapy.

In the future, OHSU may be able to provide similar hope to other patients with inherited retinal disorders. OHSU is a treatment centre for nine different gene therapy trials for other blindness-causing genetic mutations. If the trials are successful, the developers of each treatment may submit them for federal approval so more patients can benefit from a lifetime of eyesight.

David Wilson, from the OHSU Casey Eye Institute, said: “Gene therapy can give some patients who face the possibility of blindness the gift of restored eyesight.

“OHSU is proud to offer this treatment and participate in clinical trials for nine other ophthalmologic gene therapies to help give more people a lifetime of vision.”

Cathy Yelf, chief executive of the Macular Society, said: “This is the first gene therapy for an eye condition and the positive results prove it can be done. At this stage it is unclear how long it will be until this is an affordable or viable treatment but it is a step in the right direction.”