Gene therapy drug developed in Philadelphia helps people with rare hereditary blindness see

Thursday, 12 October 2017, 04:53:40 PM. Gene therapy drug developed at Children's Hospital of Philadelphia will be considered by FDA advisers to treat rare inherited blindness.

Christian Guardino, 17, who was born with a rare inherited blindness, believes in miracles because he says he has lived one.

When he was 12, he received a pioneering gene therapy treatment developed by Philadelphia drug maker Spark Therapeutics and researchers at Children’s Hospital of Philadelphia.

Almost overnight, the high school senior from Patchogue, N.Y., said he could see for the first time the moon, the stars, and a sunset.

“This gene therapy completely changed my life and gave me sight that I never had,” said the teen, who fulfilled another dream in June when he earned a golden buzzer award that took him to the semifinals of NBC television’s “America’s Got Talent.” (He didn’t make the finals, but his goal is to become a recording artist.)

Guardino will join patients, parents, physicians, and scientists to urge a U.S. Food and Drug Administration advisory committee Thursday to recommend approval of the first-ever gene therapy for a genetic disease in the United States.

A decision by the FDA, which usually follows its panel recommendations, is expected Jan. 12.

Spark’s treatment, which injects a copy of healthy genes directly into the eye’s retina, was developed at CHOP based on decades of research spearheaded by Katherine A. High, Spark’s cofounder.

“We found great results in people of all ages,” said Jean Bennett, a University of Pennsylvania researcher who with her husband, Albert Maguire, led testing at Children’s Hospital of Philadelphia.

Spark has data from 41 participants in three clinical trials. Forty had both eyes injected with the therapy, called voretigene neparvovec. One person had glaucoma in the second eye and didn’t qualify for the injection, Bennett said. The oldest patient was 44.

In a late-stage Phase 3 study, 27 of the 29 participants had vision improvement. One person lost visual acuity, or sharpness of vision. A second person got a bacterial infection and reacted to medication used to treat the infection after the injection.

The treatment, to be known by the brand name Luxturna, does not give 100 percent vision. It is intended to be a one-time treatment.

“Hopefully, if and when this gets approved, it will have a large impact on the patients and on the field in general,” said Paul Yang, an eye specialist in genetics and ocular immunology at Casey Eye Institute at Oregon Health & Science University.

“According to the published studies, I don’t see any red flags. The patients do benefit,” said Yang, who is testing gene therapies for other inherited retinal problems.

Spark’s therapy is for Leber congenital amaurosis, a defect in a gene called RPE65. “It’s a devastating disease in which patients become blind within the first year, if not the first 10 years of life,” Yang said. About 3,500 people in the United States and Europe live with the disease.

The therapy, if approved, will have broader implications to work for other inherited eye diseases and other genes. “It will propel the field towards developing additional treatments and, hopefully, set a new precedent for getting treatments developed and covered [by insurance] for patients, who otherwise would have nothing else,” said Yang.

Spark has not discussed the price of  Luxturna. Analysts at Cowen & Co have estimated revenue will be $100 million next year, $300 million in 2019, and $650 million by 2022.

Elizabeth Guardino, who plans to attend the hearing at the FDA offices in Silver Spring, Md., with her son, said the therapy is not a 100 percent vision fix. Christian’s vision is 75 percent to 80 percent better than before. “He’s able to walk out on stage to his center point, perform, move around the stage, which is something he never could do.

“Seeing my child go from what he was, to what he is now, was literally like watching a miracle happen in front of me,” the mother said. “It’s such a groundbreaking treatment for people who are affected by this retinal disease.”

Ashley Carper is scheduled to tell the panel Thursday about her children, Cole and Caroline, who were 8 and 10, respectively, when they received the treatment. Carper told the Associated Press that her children came home and marveled at seeing stars in the sky, and falling snow and rain. Before the surgery, they used canes and went to a school for the blind.

“I’ve heard so many stories like that,” said Penn’s Bennett, part of the team that cloned the gene in a laboratory before the clinical trials. Bennett also assembled the prototype of an obstacle course to test vision and the ability of patients to navigate accurately and quickly in different levels of light after treatment.

“The Carpers’ mom told me that after the surgery, the kids came home and went to their rooms and said, ‘Mom, when did you put these pictures on my wall? And the wallpaper is all changed.'”

“They hadn’t seen it before,” Bennett said. “This was the first time they’d seen it.”

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