Gene Therapy for Pediatric Eye Disorders

What is Gene Therapy?

Gene therapy is a treatment that adds a new gene (gene augmentation) or alters the way an existing gene is expressed for therapeutic benefit. Gene therapy is currently being studied as a treatment for cancer, infectious disease and genetic or inherited diseases.

Examples of gene therapy include

• A disease-causing gene can be modified.
• A disease-causing gene or its effects can be inactivated.
• A new or modified gene can be introduced into the body to help treat a disease (gene augmentation).

Gene Therapy for Pediatric Eye Disorders

In recent years, there have been significant breakthroughs in the use of gene therapy to treat retinal disorders.

The first FDA-approved gene therapy is voretigene neparvovec (also known as LUXTURNA). It is gene augmentation therapy to treat a rare inherited eye condition, RPE65-related retinal dystrophy.

What is RPE65-related retinal dystrophy?

RPE65-related retinal dystrophy is due to both copies of a patient’s RPE65 gene are not functioning properly. Lack of the gene’s protein product causes the retina to become sick and eventually non-functional. If left untreated, RPE65-related retinal dystrophy is typically associated with progressive retinal cell death and eventual blindness.

How does RPE65 Gene Therapy Work?

Voretigene neparvovec is a bioengineered non-pathogenic virus vector that carries normal copies of the RPE65 gene. After a surgical procedure to remove the vitreous of the eye (vitrectomy), the vector is injected under the retina. The vector then inserts normal copies of the RPE65 gene into the retina, and they start functioning in the retina. This rescues sick retina and helps prevent further progression of the disease.

In general, gene therapy to treat retinal disorders is best performed at a young age, before significant retinal damage has occurred.

Cleveland Clinic Abu Dhabi’ Eye Institute is one of only a handful of centers in the world with the capabilities and expertise to perform this type of gene therapy.

Learn more about the groundbreaking gene therapy at Cleveland Clinic Abu Dhabi which saved two young girls’ vision, here.

Paving the Way for Further Breakthroughs

The LUXTURNA gene therapy marked a significant breakthrough, paving the way for genetic therapies which will be able to treat more retinal diseases in the future. Scientists are currently exploring its application in the treatment of other retinal diseases such as age-related macular degeneration (AMD), choroideremia, achromatopsia, and retinitis pigmentosa.

Pediatric Eye Service

Eye diseases in children are different to those in adults and require a specialized approach. The experienced team within our Pediatric Eye Service work together to provide the best possible care for children.

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