Researchers see gene-therapy grant improving vision


Published: Wednesday, July 24, 2013 at 4:59 p.m.
Last Modified: Wednesday, July 24, 2013 at 4:59 p.m.

The University of Florida’s ophthalmology department, together with gene therapy company AGTC in Alachua, received an $8.4 million grant from the National Eye Institute at the National Institutes of Health to study gene therapy for achromatopsia, a genetic condition that severely impairs peoples’ vision.

The NEI gives out few grants each year, and this one lasts five years.

“It’s a very significant grant. It’s a great validation of the team that we put together,” said Sue Washer, president and CEO of AGTC.

According to Dr. William Hauswirth, the UF professor who will be leading the UF portion of the trial, “Barring any real unforeseen and unfortunate challenges, we’ll be trying it on patients in three years.”

Hauswirth has been working on gene therapy for blindness for the past 30 years, using recombinant viruses to generate copies of faulty or missing genes affecting vision.

Achromatopsia, which affects the cones on the retina called fovea, makes it very difficult for people to read, navigate and recognize others. Patients are also very sensitive to bright room light, and most are legally blind, Hauswirth explained.

“It’s a relatively common disease, even though it’s still considered an orphan disease, but there are lots of patients out there,” Hauswirth said, adding that the condition affects about 22,000 people in the United States and Europe.

“They would all love to do (the trial), but we’ll have to start carefully with a few patients in each site.”

Washer said the therapy being studied in this trial could potentially help about half those patients, those who carry the faulty gene.

“But we’re very hopeful that success will translate into us being able to develop a follow-up product that will help the remaining patients,” she said.

There are seven trial sites total in the U.S., and each one will study a slightly different part of the disease and the gene therapy, Hauswirth said.

The therapy delivers copies of the achromatopsia gene to the retina, effectively replacing the faulty gene.

Hauswirth said there have been promising results in dogs and mice. “I’m quite optimistic,” he said, adding that patients should have improved visual acuity and reading ability and reduced pain in daylight.

“Quality of life ends up being the bottom line here,” Hauswirth said. “Can they navigate by themselves, get along better socially?”

Hauswirth’s research on patients with Leber’s congenital amaurosis (LCA), another disease that causes blindness and affects a different gene, has shown promise in human trials, restoring functional vision to several patients.

“It’s nice to see it where I’m actually treating patients instead of mice and dogs,” Hauswirth said. “At the time I started, there wasn’t even a gene known that causes these diseases.”

The process from discovering a gene therapy and getting it to patients, however, usually takes several years, and that’s where AGTC comes in.

“We bring the perspective of translational research to the table,” Washer said, adding “that happens in between when a discovery is made at an academic center and when the FDA approves a product.”

Prepping a product for the market involves taking it from promising animal work to preclinical work through three-phase trials in humans to determine safety and efficacy -- in total, about an eight- to 12-year process, Washer said.

Contact Kristine Crane at 338-3119, or kristine.crane@gvillesun.com.

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