Coverage: FDA approves drug for childhood blindness

The U.S. Food and Drug Administration just approved a new gene therapy that can treat an inherited childhood blindness disease.

Katherine Ellen Foley of Quartz had the story:

On Tuesday Dec. 19, the FDA gave doctors the clearance to use Luxturna, a gene therapy, to treat the effects of biallelic RPE65 mutation-associated retinal dystrophy, a rare genetic eye disease. Patients have two copies of a mutated gene (one from each parent) called RPE65, which gradually leads to severely impaired sight in childhood and, in some cases, blindness by adolescence. Luxturna can stop and even in come cases reverse the effects of the condition.

Luxturna, made by Spark Therapeutics, is essentially a benign virus with a functional version of the gene. It’s injected directly into the retina. Once in the eye, the gene can do some of the work the patient’s own mutated copies cannot, which stops the progress of the disease, and in some cases, improves vision. The FDA approved Luxturna after a stage three clinical trial in which patients who received the drug could navigate an obstacle course at night significantly better than those who received a placebo injection. Some patients in the trial who got the injection recovered their ability to do things like read, play sports, and see the stars, according to NPR.

Adam Feuerstein of STAT reported that the drug is the first gene therapy approved to treat a mutation:

Luxturna is the first gene therapy approved in the U.S. that targets a disease caused by mutations in a specific gene.

A Spark spokesman said the company will not disclose the Luxturna price tag until early January. Wall Street analysts expect the gene therapy to command a $1 million price tag — another first, but not necessarily a welcome one. At a time when drug prices are coming under intense scrutiny, Spark will need to convince insurers, politicians, and pharma critics that the benefit to patients offered by Luxturna justifies its high cost.

The Institute for Clinical and Econonic Review (ICER), an influential non-profit that studies the cost effectiveness of new drugs, is holding a meeting to review Luxturna on Jan. 25.

Spark CEO Jeffrey Marrazzo called the FDA announcement a landmark moment “decades in the making for the field of gene therapy.”

Laurie McGinley of The Washington Post reported that the longterm effects are still unknown:

Forty-one patients have been treated with the therapy at the University of Iowa and Children’s Hospital of Philadelphia (CHOP), from which Spark Therapeutics was created in 2013. The treatment’s long-term effectiveness remains unclear, though researchers have noted that the first three patients to receive it in 2007 are in their 20s and 30s and still have improved vision.

An FDA advisory committee unanimously recommended in October that Luxturna be approved. The therapy is expected to be available in select treatment centers late in the first quarter of 2018.

Spark Therapeutics chief executive Jeffrey Marrazzo has talked repeatedly about the challenge of setting a price for a treatment that is designed to be administered once but provide benefits over years or even a lifetime. He has said he was considering several factors in weight the price, including the value of a patient being able to work because of improved vision and a reduced need for caregiving.

In a draft report, the Institute for Clinical and Economic Review, which evaluates evidence on the value of medical treatments, said that if the price were set at $1 million, that would make the treatment “unlikely to be a cost-effective intervention at commonly used cost-effectiveness thresholds.” The Boston-based nonprofit acknowledged, however, that payers weighing coverage for ultra-rare diseases often give special weight to other benefits.