Gene therapy approved to restore vision for genetically blind

Luxturna is the first gene therapy treatment approved in Canada, but without provincial funding, it comes at a high cost

Diana Duong 3 minute read October 15, 2020
closeup photo of brown eyes

Canada's first-ever approved gene therapy will help restore vision for people with genetic blindness disease. But it will come at a cost if funding is not approved. Getty Images

A new treatment has been approved in Canada this week that will restore eyesight for people who have a genetic blinding eye disease.

Voretigene neparvovec (known as Luxturna) is a targeted gene therapy — the first targeted gene therapy to be approved in Canada.

Luxturna will help people with retinitis pigmentosa (RP) or Leber congenital amaurosis (LCA), two types of genetic mutations on the RPE65 gene that cause vision loss and blindness. Retinitis pigmentosa is a group of inherited eye diseases that affect the eye’s retina — the nerve layer at the back of the eye made of rod and cone cells which detects light and colour.

Leber congenital amaurosis is an eye disorder that also affects the retina and typically begins in infancy. Both of these diseases cause a gradual loss in eyesight, particularly in night vision.

The treatment works by providing a healthy RPE65 gene into mutated and inactivated viruses. It’s injected into the retina which creates a new, working version of the gene that produces proteins to improve the retina’s visual process, restoring vision and preventing further disease progression.

“For the first time, it means we have a treatment option — bringing hope to families affected by genetic mutations causing blindness and to everyone in the vision loss community,” said Doug Earle, president and CEO of Fighting Blindness Canada, in a statement.

Dr. Elise Héon, a clinician-scientist in the field of ocular genetics with The Hospital for Sick Children in Toronto, which will be one of the sites for treatment in Canada, says the approval of this drug is “a significant step forward.”

“Until now, patients…had no treatment options and the progression towards complete blindness was inevitable. These families now have hope with the promise of a one-time treatment option that can improve or restore vision, especially night vision,” she said in a press release.

Affordability is still an issue

Although this presents a solution for people who have vision loss due to the RPE65 mutation, it could still be inaccessible for many families.

Novartis Pharmaceuticals Canada Inc. has not disclosed the cost of the drug yet, but in the U.S., where Luxturna has been available since September 2017, a one-time treatment for both eyes costs USD $850,000. This could convert to more than $1.1 million in Canada, which would make it one of the world’s most expensive drugs.

Health Canada’s approval of the treatment will not mean much if Canadian families can’t afford to access it

“Health Canada’s approval of the treatment will not mean much if Canadian families can’t afford to access it. We are calling on the provinces to fund this groundbreaking treatment for Canadian families in need,” says Earle.

Patients are still awaiting for the Canadian Agency for Drugs and Technologies In Health (CADTH) and the Institut national d’excellence en santé et en services sociaux (INESSS) to announce its coverage in provincial drug benefit programs. That is expected to come later this fall.

If your family could be at risk of genetic eye diseases, Earle recommends eye health practitioners to refer their patients to genetic testing to identify any eye diseases.

To check whether genetic testing is done in your province, visit | @dianaduo
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