Rare Daily Staff
The Committee for Medicinal Products for Human Use of the European Medicines Agency issued a positive opinion recommending approval of Luxturna, Spark Therapeutics’ gene therapy for the treatment of adult and pediatric patients with vision loss due to inherited retinal dystrophy caused by a specific genetic mutation.
Luxturna is indicated for people with confirmed biallelic RPE65 mutations and who have sufficient viable retinal cells. People living with inherited retinal disease due to biallelic RPE65 gene mutations often experience night blindness due to decreased light sensitivity in childhood or early adulthood and involuntary back-and-forth eye movements. As the disease progresses, individuals may experience loss in their peripheral vision, developing tunnel vision, and eventually, they may lose their central vision as well, resulting in total blindness.
Luxturna works by delivering a normal copy of the RPE65 gene directly to retinal cells. These retinal cells then produce the normal protein that converts light to an electrical signal in the retina to restore a patient’s vision loss. Luxturna uses a naturally occurring adeno-associated virus, which has been modified using recombinant DNA techniques, as a vehicle to deliver the normal human RPE65 gene to the retinal cells to restore vision. There are currently no approved pharmacologic treatment options for inherited retinal disease due to biallelic RPE65 gene mutations.
A marketing authorization decision from the European Commission is anticipated within approximately 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 entered into a licensing and supply agreement with Novartis to commercialize Luxturna when and if approved in Europe and all markets outside the United States.
The positive CHMP opinion is based on data from a 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. Spark has received orphan product designation for Luxturna from the EMA for the treatment of inherited retinal dystrophies.
“Inherited retinal diseases are a heterogenous group of degenerative conditions that represent the major cause of blindness in childhood and active working life,” said Christina Fasser, president of Retina International, an umbrella organization of more than 43 patient organizations worldwide promoting research to find treatments for inherited retinal degenerative diseases. “This opinion represents a hopeful milestone for current and future patients who may ultimately benefit from gene therapy.”
September 24, 2018
Christina Fasser, president of Retina International