November 26, 2018
3 min read

Europe approves first gene therapy for retinal dystrophy

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Bart P. Leroy

On Nov. 23, the European Commission approved the first gene therapy for the treatment of inherited retinal disease related to a mutation of the RPE65 gene. Luxturna will be authorized in all 28 EU member states as well as Norway, Iceland and Lichtenstein.

The ophthalmology community reacted with great enthusiasm. Not only is an option now available for patients who were blind from an early age, but also an important first step has been made into a new era. Luxturna (voretigene neparvovec, Novartis) is the result of 20 years of research, preclinically and in humans, and may be the icebreaker in the field of genetic therapy in ophthalmology.

“We are all excited. After 10 years of studies in humans, we have been able to produce convincing evidence for both the FDA and the [European Medicines Agency] that this therapy is safe and effective. European patients will now also be able to have the treatment,” Bart P. Leroy, MD, PhD, ophthalmologist and clinical geneticist, professor and head of ophthalmology at the University Hospital of Ghent, Belgium, and director of the Retinal Degenerations Clinic at Children’s Hospital of Philadelphia, told The product has been available on the U.S. market since March.

The RPE65 gene encodes an essential enzyme in the retinal pigment epithelium (RPE) that plays a key role in the metabolism of vitamin A and thus in the biochemical cascade that enables photoreceptors to translate light into electrical signals. Biallelic RPE65 gene mutations lead to retinal dystrophies.

“Making an educated estimate, RPE65-related retinal dystrophies affect approximately one in 200,000 people, many of them still undiagnosed. Hence, up to 35,000 people in the world could potentially benefit from this therapy,” Leroy said.

Luxturna has been shown to be beneficial in children from 4 years of age, as well as in adults who retain viable cells in the retina, approximately up to the age of 40 to 50 years or older. Children from the age of 1 year onward can be treated. The treatment is injected in a single administration after pars plana vitrectomy, in the subretinal space, between the photoreceptor layer and the RPE.

“It is a drop of liquid, 300 mL, which holds 150 billion viruses that target the pigment epithelium. In a couple of hours, the liquid is pumped away, the vectors enter the RPE cells and deliver a novel copy of the RPE65 gene to the nucleus,” Leroy said.


The novel multi-luminance mobility test showed improvement in the ability of patients to navigate a course accurately, the majority even at the lowest light level.

“In real life I can illustrate this with what two young boys, now two young men, said after the treatment already 10 years ago. One of them, when leaving the hospital in Philadelphia, said, ‘Mammy, I can see the city lights with my operated eye and not with the other.’ He also said, ‘It’s fantastic, you have blue eyes.’ The other boy told me that in the evening he was able to see the white stripes of the pedestrian crossing with his operated eye. After 10 years, these results are maintained,” Leroy said.

The effect produced by the treatment is a significant light sensitivity improvement, he said.

“[Best corrected visual acuity] does not improve in all patients, as should be expected in patients who have had limited neurovisual development. However, increased light sensitivity constitutes a major improvement in the patient’s life,” he said.

It will now be up to the national health services of individual countries to implement reimbursement policies for Luxturna.

“Novartis is working closely with all stakeholders to help ensure that eligible patients can start benefiting from this treatment as quickly as possible once reimbursement decisions are available in 2019 and 2020,” according to a Novartis press release.

“This is really an exciting time,” Dirk Sauer, global development unit head, Novartis Ophthalmology, told “Back in 2005, when I started to work in the ophthalmology area, I had the privilege to be involved in the development of Lucentis, giving wet AMD patients a treatment which improved their vision — this didn’t exist before. Now I am witnessing the advent of a second major breakthrough,” he said.

He believes that the next 10 years will be the time of gene therapy in ophthalmology.

“Gene therapy will be the answer for a number of rare diseases in ophthalmology and eventually could even be effective in more frequent diseases like AMD. A company like Novartis, very impressive in this space, continues to be a pioneer in this area,” he said. – by Michela Cimberle

For more information:

Bart P. Leroy, MD, PhD, can be reached at Department of Ophthalmology & Center for Medical Genetics, Ghent, Belgium; email:

Dirk Sauer can be reached at email:

Disclosures: Leroy reports he works with Novartis, Bayer, Second Sight and other companies that finance research in his hospital but has no personal financial interest. Sauer reports he is global development unit head of Novartis Ophthalmology.