EC OKs Gene Therapy Luxturna for Inherited Retinal Dystrophy

Megan Brooks


November 27, 2018

The European Commission (EC) has approved voretigene neparvovec (Luxturna, Spark Therapeutics) for children and adults with vision loss due to inherited retinal dystrophy caused by mutations in both copies of the RPE65 gene who have enough viable retinal cells.

Voretigene neparvovec, the first gene therapy approved in Europe for inherited retinal dystrophy, provides a working copy of the RPE65 gene to place the mutated RPE65 gene. It is a one-time therapy for each eye and is injected beneath the retina.

The authorization is valid in all 28 member states of the European Union, as well as Iceland, Liechtenstein, and Norway.

Roughly 1 in 200,000 people are born with mutations in both copies of the RPE65 gene, which can lead to profound loss of sight at an early age. Most patients progress to total blindness. The working copy of the RPE65 gene provided by voretigene neparvovec can restore vision and improve sight in children and adults with sufficient viable retinal cells, explained Novartis, which acquired the rights to the therapy outside of the United States, in a news release.

The green light from the EC follows a positive opinion from the Committee for Medicinal Products for Human Use of the European Medicines Agency, as previously reported by Medscape Medical News.

In a phase 3 clinical trial, vision improvement was noted as early as 30 days following treatment. At 1 year, compared to the control group, patients who underwent treatment with voretigene neparvovec improved by 1.6 light levels on the binocular multiluminance mobility test (MLMT). Vision improved by one or more light levels for 90% of patients treated with voretigene neparvovec, and 65% were able to successfully navigate the MLMT at the lowest light level of 1 lux at 1 year.

The MLMT measures changes in patient-relevant functional vision by asking patients to navigate a course accurately and at a reasonable pace. The test employs seven different levels of illumination, ranging from 400 lux (corresponding to a brightly lit office) to one lux (corresponding to a moonless summer night).

"It's exciting to practice medicine at a time when we can offer options to children and adults facing blindness. After more than 20 years of gene therapy research, there is finally a promising future ahead for the treatment of rare genetic eye disorders," Bart Leroy, MD, PhD, ophthalmologist and clinical geneticist, professor, head of the Department of Ophthalmology at Ghent University Hospital, Belgium, and director of the Retinal Degenerations Clinic at Children's Hospital of Philadelphia, in Pennsylvania, said in the release.

The US Food and Drug Administration (FDA) approved voretigene neparvovec for biallelic RPE65 mutation–associated retinal dystrophy in December 2017 following a unanimous thumbs up from an FDA advisory committee.

The therapy, however, comes at a hefty price — $850,000 in the United States, or $425,000 per eye, according to the publication Managed Care.

Novartis said it expects decisions from national reimbursement bodies in Europe regarding voretigene neparvovec in 2019 and 2020. The company said it is exploring a range of "resources and innovative reimbursement and access" approaches to support both patients and healthcare providers.

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