First Gene Therapy for an Inherited Retinal Disease Recommended for Approval in Europe

The European Medicines Agency (EMA) Committee for Medicinal Products for Human Use (CHMP) have recommended approval of Luxturna for the treatment of inherited retinal dystrophy caused by mutations in the RPE65 gene. A final decision will be made by the European Commission within the next two months.

The positive opinion by the CHMP recommends the granting of market authorisation for Luxturna in all European Union (EU) and European Economic Area (EEA) countries for the treatment of adult and paediatric patients with vision loss due to inherited retinal dystrophy caused by confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells. This is explained in the sections below.

What is a biallelic RPE65 mutation?

The RPE65 gene provides instructions for making an enzyme that is essential for normal vision. Mutations in the RPE65 gene lead to reduced or absent levels of RPE65 activity, blocking the visual cycle and resulting in impaired vision.

Every person has two copies of each gene, one inherited from each parent. The term biallelic means that the individual carries a mutation in both copies of the RPE65 gene (a paternal and a maternal mutation). These individuals experience progressive deterioration of vision over time. This loss of vision, often during childhood or adolescence, ultimately progresses to complete blindness.


Luxturna is a one-time gene therapy which works by delivering a normal functional copy of the RPE65 gene directly into the cells of the retina through a single retinal injection. This restores the production pathway for the required enzyme, improving the individual’s ability to detect light. The retinal cells then produce the normal protein that converts light to an electrical signal in the retina, thereby stopping further vision loss and restoring some functional vision. Luxturna uses a naturally occurring virus called an adeno-associated virus (which has been modified and rendered harmless) as a vehicle to deliver the normal human RPE65 gene to the retinal cells to restore vision.

For people to benefit from the therapy, they must have enough remaining viable retinal cells in the retina (the thin layer of tissue in the back of the eyes) as determined by a healthcare professional.

In the main clinical trial supporting the approval of Luxturna, patients treated with the medicine showed a significant improvement of night vision after one year. The most common side effects were conjunctival hyperaemia (eye redness), cataracts and increased intraocular pressure.

About the Authorisation Process

The European Medicines Agency is responsible for the scientific evaluation, supervision and safety monitoring of medicines in the EU. The Committee for Medicinal Products for Human Use (CHMP) is the EMA’s committee responsible for human medicines. The CHMP’s assessments are based on a comprehensive scientific evaluation of data. They determine whether the medicine meets the necessary quality, safety and efficacy requirements and that it has a positive risk-benefit balance. The EMA have published a press release on their website here

The CHMP’s opinion will now be sent to the European Commission for the adoption of a decision on an EU-wide marketing authorisation. This decision is expected within approximately two months. Once a marketing authorisation has been granted, decisions about price and reimbursement take place at the national level of each Member State.

About the Manufacturer

The applicant for Luxturna is Spark Therapeutics Ireland Ltd. In January 2018, Spark Therapeutics entered into a licensing and supply agreement with Novartis covering development, registration and commercialization rights to Luxturna in markets outside the US. Commercialization rights in the EU/EEA will be transferred to Novartis upon successful completion of EU registration and issuance of marketing authorization.

A press release from Spark Therapeutics is available on their website here.

A press release from Novartis is available on their website here.

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