EMA Recommends New Gene Therapy for Rare Inherited Disorder for Approval

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The European Medicines Agency has recommended Luxturna (voretigene neparvovec) as the first treatment option for hereditary retinal dystrophy with mutations of the RPE65 gene.

On Sept. 21, 2018, the European Medicines Agency (EMA) announced that its Committee for Medicinal Products for Human Use (CHMP) recommended granting a marketing authorization for the gene therapy Luxturna (voretigene neparvovec), for the treatment of adults and children suffering from inherited retinal dystrophy caused by RPE65 gene mutations, a rare genetic disorder that causes vision loss and usually leads to blindness.

The mutations of the RPE65 gene, which encodes one of the enzymes involved in the biochemistry of light capture by the cells of the retina, hinder the patient’s ability to detect light, followed by a progressive loss of vision. According to EMA, most patients will be blind by the time they are young adults. There is currently no treatment for this disease, with support to patients being limited to management of the disease, including such as aids for low vision.

Luxturna is suited for patients with confirmed biallelic mutations of the RPE65 gene (i.e., patients who have inherited the mutation from both parents) and who have sufficient viable retinal cells. It is the first gene therapy to be recommended for approval by EMA for a retinal disease. The drug works by delivering a functional RPE65 gene into the cells of the retina through a single retinal injection, which restores the production pathway for the required enzyme thereby improving the patient’s ability to detect light. 

“Given the novelty of the treatment and the limited number of treated patients, CHMP requires the company to ensure the long-term follow-up of patients to confirm Luxturna’s continuing efficacy and safety,” EMA stated in an agency press release. “Follow-up studies were agreed, including a post-authorization safety study based on a disease registry in patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations, as well as a 15-year follow-up program of efficacy and safety outcomes for all patients treated in the clinical program.”

The opinion adopted by the CHMP is an intermediary step on the drug’s path to patient access. The opinion will now be sent to the European Commission for the adoption of a decision on European Union-wide marketing authorization. Once the marketing authorization has been granted, decisions about price and reimbursement will take place at the level of each member state, considering the potential role/use of this medicine in the context of the national health system of that country.


“We are encouraged by today’s decision, which further affirms our pioneering clinical program and brings Luxturna one step closer to patients with inherited retinal disease (IRD) caused by mutations in both copies of the RPE65 gene in the [EU],” said Katherine A. High, MD, president and head of research & development at Spark Therapeutics. “Along with Novartis, we look forward to continuing our productive, ongoing dialogue with EMA toward potential marketing authorization to make Luxturna the first and only treatment for appropriate patients with this inherited retinal disease in the [EU].”

In January 2018, Spark Therapeutics entered into a licensing and supply agreement with Novartis covering development, registration, and commercialization rights to Luxturnain markets outside the United States. Stark Therapeutics states that commercialization rights will be transferred to Novartis upon successful completion of registration and issuance of marketing authorization. Novartis has exclusive rights to pursue development, registration, and commercialization in all other countries outside the US, and Spark Therapeutics would supply the gene therapy to Novartis.

FDA approved the drug for biallelic RPE65 mutation-associated retinal dystrophy in December 2017.

Source: EMASpark Therapeutics