Single Use Gene Therapy Approved in the EU for Leber’s Congenital Amaurosis

According to a story from, the drug developer Novartis has recently announced that the company’s gene therapy Luxturna has gained approval in the EU as a treatment for Leber’s congenital amaurosis that is linked to mutations of the RPE65 gene. This is a rare eye disease that causes progressive loss of vision. The therapy is also approved for other diseases that cause vision loss that are linked to mutations of this gene; retinitis pigmentosa is a prime example. This single use gene therapy can help restore a patient’s eye sight.

About Leber’s Congenital Amaurosis

Leber’s congenital amaurosis is a genetic disorder which causes vision loss and often affects children and newborns. There are many different variants of this disorder which are distinguished from one another by which mutation is the cause. Symptoms include involuntary eye movements, severe vision loss and blindness, light sensitivity and slow pupil response. Early clinical trials conducted in 2008 were the first which signaled the potential of gene therapy as a treatment for Leber’s congenital amaurosis and other eye diseases which were linked to the RPE65 gene. Leber’s congenital amaurosis occurs at an estimated rate of one in 40,000 births. To learn more about Leber’s congenital amaurosis, click here.

About Luxturna

Luxturna first gained approval in the US in December 2017 as a gene therapy for Leber’s congenital amaurosis and other genetic diseases which can be caused by RPE65 mutations. Generally, it is recommended that treatment be administered as early as possible in the course of the disease in order to achieve the best results. The therapy works by replacing one of the mutated copies of the gene with a copy that functions normally. Data from the drug’s Phase 3 clinical trial indicates the vision improvement can begin as early as 30 days following administration. 

In the meantime, EU member states are expected to make decision regarding the coverage of treatment with Luxturna as quickly as possible so that patients that are currently in need can receive access to the drug. For the first time, patients in the EU with Leber’s congenital amaurosis and other degenerative eye diseases associated with RPE65 mutations will have access to a single use gene therapy that can help restore their vision.

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