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What is gene therapy?

Gene therapy is the process of giving a person with a genetic disorder a working copy of the malfunctioning, or “mutated” gene that causes their condition. The new gene is delivered into a person’s cells using specially prepared, common viruses that have been modified so they no longer are able to cause a viral infection in your body. Once the new, working gene is delivered by the virus, a patient’s own body uses it to repair or replace the mutated gene. A single gene therapy treatment can provide long-lasting benefits that may lead to a better quality of life.

How do I find out my gene mutation?

Gene mutations can be identified with a simple blood or saliva test.Talk to your doctor about getting tested.Many insurance companies will cover the cost of the test.In addition, the Foundation Fighting Blindness offers free genetic testing for many inherited retinal disorders including achromatopsia. To find out more about their testing, go to www.myretinatracker.org. Before you enroll in the Clarity Clinical Trial, AGTC will cover the cost of genetic testing to confirm your eligibility. If you are interested in learning more about whether you are eligible for one of AGTC’s achromatopsia trials, click here.

Gene therapy and achromatopsia

Achromatopsia is a rare inherited eye disorder that is caused by a broken, or “mutated” gene that keeps the cone cells in a person’s eyes from working properly. In achromatopsia, the two most common mutations are in the CNGA3 gene or the CNGB3 gene. In our research, we are studying how to use gene therapy to replace a mutated gene with a working copy of the same gene. Our hope is that fixing the gene will help repair the cone cells and improve the symptoms of achromatopsia.

While there is currently no treatment for achromatopsia, gene therapy research in animals is promising. The two videos below show a dog and a sheep with achromatopsia that received gene therapy and both experienced long-term improvement to their vision.


In this video, a dog with achromatopsia caused by a CNGB3 mutation is unable to navigate a maze. Four months after being treated with a gene therapy product developed by AGTC, the dog is able to successfully navigate the maze.

In this video, a sheep affected by achromatopsia caused by a CNGA3 mutation is unable to navigate an obstacle course.Three months after being treated with a gene therapy developed by AGTC, the sheep is able to successfully navigate the same obstacle course.
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