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Doctor Speak: Gene Therapy

Gene therapy study shows potential for treating blindness

Patrick Munson MD, Vice President of Board of Directors

Gene Therapy is the second in our Doctor’s Speak Series:  At the American Academy of Ophthalmology’s 121st Annual Meeting, researchers presented the results of efforts to treat a certain kind of blindness called Leber’s Congenital Amarousis (LCA) using gene therapy.  Patients with this disease are born missing a protein needed for good vision.  Without it, they may only see light and dark, or nothing at all.  In the study, patients were given a new copy of this gene.  The gene is delivered using a virus injected directly into the eye.  After the treatment, patients were asked to complete a maze.  Of those treated, 18 of 20 patients successfully completed the maze.  The treatment does not restore 20/20 vision, but it may allow patients to function more independently.  In a recent interview, children in the study described their excitement at seeing falling snow and twinkling stars for the first time.

Spark Therapeutics makes the drug, Luxturna, used in the clinical trial.  Last week, the Food and Drug Administration announced they would consider approval of this genetic treatment. If approved, it would be the first gene therapy given directly to a patient.  Only one other gene therapy is currently approved, and that treats blood cells in a lab setting.  While LCA is a rare disease, other genetic visual disorders, such as Retinitis Pigmentosa, may also benefit from this kind of therapy.  A decision is expected from the FDA in January.

For more information about causes of low vision see our Learn About Vision page.

Dr. Patrick Munson is a board-certified comprehensive ophthalmologist who provides medical and surgical therapy to patients with a wide variety of visual disorders.