Understand how we got here — and how to move forward.


October 16, 2017

In a first, FDA panel backs a gene therapy for an inherited disease

Daily Briefing

    An FDA panel on Thursday unanimously recommended the approval of a gene therapy for a rare, inherited retinal disease.

    FDA is not required to follow the panel's recommendations, but Reuters reports it frequently does. If approved, the treatment, Spark Therapeutics' Luxturna—would be the first gene therapy cleared by FDA for an inherited disorder, according to NPR's "Shots." FDA is set to make a decision by Jan. 12, 2018.

    Four common problems that derail retinal screening

    Gene therapy details

    Luxturna is an injectable gene therapy designed to treat RPE65-mutation associated retinal dystrophy, which is caused by a defective gene that damages an individual's sight. According to "Shots," the disease affects about 1,000 to 2,000 U.S. residents. The disease often is diagnosed in childhood. Patients generally begin to progress toward total blindness before age 18 and experience difficulty seeing at night.

    For the treatment, doctors inject genetically modified versions of the gene into an individual's eyes to take over the role of the defective gene. Clinical trial data show 93 percent of the trial's 29 patients, ages 4 to 44, who received Luxturna reported some improvement in their functional vision, but they did not show a statistically significant improvement in their "visual acuity," which refers the clarity and sharpness of their vision. There were no side effects associated with the gene therapy, but some patients reported adverse reactions linked to the injection, including permanent damage and a dangerous rise in eye pressure.

    Albert Maguire, a professor of ophthalmology who led the study at the University of Pennsylvania, said, "Many [participants] went from being legally blind to not being legally blind."

    FDA panel recommendations

    During a hearing on Thursday, FDA panelists heard testimonials from doctors, families of children affected by RPE65-mutation associated retinal dystrophy, and children and young adults who received the treatment.

    One such patient, Christian Guardino, told the panel, "I've been able to see things that I've never seen before, like stars, fireworks, and even the moon," adding, "I will forever be grateful for receiving gene therapy." Another patient, Misty Lovelace, said, "I can honestly say my biggest dream came true when I got my sight."

    The FDA panel ultimately voted 16-0 to recommend that the agency approve Luxturna to treat inherited retinal disease caused by RPE65 mutation. The panelists concluded that the scientific evidence supporting the drug's effectiveness was remarkably robust, showing few side effects.  


    Paul Yang, a professor of ophthalmology at the Oregon Health and Science University, said Luxturna is "one of the most exciting things for our field in recent memory." He added, "This would be the first approved treatment of any sort for this condition and the first approved gene therapy treatment for the eye, in general, so on multiple fronts, it's a first and ushers in a new era of gene therapy."

    Katherine High, Spark's president and head of research and development, also said the approval is a step forward for gene therapies as a whole, "One of the hopes of the Human Genome Project was to use genes to develop medicines." She added, "It has been much more complex than people imagined, but if we can succeed, it means a lot for people with rare inherited diseases."

    Jeffrey Marrazzo, Spark's CEO, declined to comment on how the company would price Luxturna, saying it would use the price of comparable drugs for other rare diseases, such as Hunter Syndrome and Pompe disease, as a benchmark. According to the Associated Press, similar drugs on the market are priced at least $250,000 (McGinley, Washington Post, 10/12; Clarke, Reuters, 10/12; Stein, "Shots," NPR, 10/12; AP/Sacramento Bee, 10/12). 

    Next: 9 steps you can take on the path toward personalized medicine

    After years of anticipation, clinical innovations will make personalized medicine widely available. However, to realize its promise, providers will need to integrate clinical innovations with care delivery redesign.

    From risk assessment to shared decision-making to self-management, learn the nine steps your organization can take on the path toward personalized medicine.

    Download the Infographic

    Have a Question?


    Ask our experts a question on any topic in health care by visiting our member portal, AskAdvisory.