UI clinical trials helps approve treatment that reverse rare gen - KWWL - Eastern Iowa Breaking News, Weather, Closings

UI clinical trials helps approve treatment that reverse rare genetic vision loss

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IOWA CITY (KWWL) -

For the first time ever, the FDA has approved a gene therapy treatment for an hereditary disease after seeing the results from clinical trials done at the University of Iowa Hospital and Clinics and the Children's Hospital in Philadelphia.

A one-time treatment, Luxturna was developed by Spark Therapeutics out of Philadelphia. The drug will be available come spring, and will treat an inherited genetic disease that causes vision loss due to mutations in a gene called RPE65. 

The disease starts in infancy and, over time, a child's vision starts to deteriorate to, often times, complete blindness. An estimated 1,000 to 2,000 people suffer from the disease.

Through a microscopic needle, Luxturna is injected into the back of the retina. It combats the bad, mutated genes with a good one.

"This is where we're actually replacing a gene, augmenting a gene in the body, so that the gene was placed inside the eye under the retina, in order to be active," Dr. Stephen Russell of the University of Iowa Hospital and Clinics said. 

Dr. Russell was part of the clinical trials done at UIHC. He said, in total, 93% of patients saw their vision improve.

"I have several patients who got jobs for the first time following intervention. First time in their life they were in their 30s and 40s. The functional measure was rather remarkable," he said.

One of those success stories was 15-year-old Molly Troxel of Omaha. 

"It has gotten better. I can stay outside when it's dark, but I couldn't do that before," Troxel said.

It's breakthroughs in the medical field like this that doctors hope will open barriers when it comes to future gene therapy.

"We finally have one disease, one point on the board, one point on the graph that says, 'yes, this can be successful.' Up until now, there hasn't even been one point on the graph that we can say 'yes.' We have a starting point.  We know it can be successful," Russell said.

Russell said he's been a part of over 20 clinical trials and has never seen such obvious results. Risks involved in the treatment include cataracts, retina breaks, eye swelling, irritation or pain.

Scientists behind the treatment believe this gene therapy approach can treat other genetic defect conditions such as certain cancers, heart disease and Parkinson's.

"I believe gene therapy will become a main-stay in treating, and maybe curing, many of our most devastating and intractable illnesses,” FDA Commissioner, Dr. Scott Gottlieb, said.

Russell said it's difficult to put a price tag on such a treatment that only needs to be administered one time and only helps a few thousand of people. Spark Therapeutics priced the treatment at about $425,000 per eye.

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