The European Medicines Agency's (EMA) Committee for Medicinal Products for Human Use (CHMP) has recommended granting a marketing authorisation for the gene therapy Luxturna (voretigene neparvovec), for the treatment of adults and children suffering from Inherited Retinal Dystrophy (IRD) caused by RPE65 gene mutations, a rare genetic disorder which causes vision loss and usually leads to blindness1,2.
Luxturna is meant for patients with confirmed biallelic mutations of the RPE65 gene (i.e. patients who have inherited the mutation from both parents) but who have sufficient viable retinal cells. It is the first gene therapy to be recommended for approval for a retinal disease.
The approval was supported by Phase 1 clinical trial, its follow-up trial and a Phase 3 trial that together enrolled 43 participants with inherited retinal disease caused by mutations on both copies of the RPE65 gene. The Phase 3 trial was the first randomized, controlled Phase 3 gene therapy trial for a genetic disease. The applicant for Luxturna is Spark Therapeutics Ireland Ltd.
The CHMP's opinion is based on the assessment by EMA's expert committee on Advanced Therapy Medicinal Products (ATMPs), the Committee for Advanced Therapies (CAT). Luxturna was designated as an orphan medicine and an ATMP, and EMA provided protocol assistance to the applicant during the development of the medicine.
About IRD by RPE65 gene mutations
Inherited retinal diseases (also known as inherited retinal dystrophies) are a group of rare blinding conditions caused by one of more than 220 different genes, often disproportionally affecting children and young adults. 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. It is a severely debilitating disease, characterised by a progressive loss of vision. Most patients will be blind by the time they are young adults. There is currently no treatment for this disease; support to patients is limited to measures allowing the management of the disease such as aids for low vision.
About Luxturna
Luxturna 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. Patients must have viable retinal cells as determined by the treating physicians.
Note - A marketing authorization decision from
the European Commission is anticipated approximately within two
months. If approved, the authorization will be valid in all
28-member states of the European Union, as well as Iceland,
Liechtenstein and Norway. In January 2018, Spark Therapeutics
entered into a licensing and supply agreement with Novartis to
commercialize LUXTURNA when and if approved in Europe and in all
markets outside the U.S. LUXTURNA would be first gene therapy for a
genetic disease approved in both U.S. and EU.
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