Gene therapy shines light on blindness

An experimental procedure proves successful after patients with a rare disease see much-improved vision

HAYLEY MICK

From Friday's Globe and Mail

The doctors warned him to go slow after the surgery, but after 21 years of being legally blind, Dale Turner wasn't about to obey.

Just steps out the hospital doors, the Peterborough, Ont., native tore off his sunglasses and feasted his eyes on something he'd thought he would never see.

"I'd never seen it in all its vibrancy," he said of the sunlit Florida sky. "It was a brilliant blue. It was just an overwhelming moment."

Mr. Turner, 21, recently became the first Canadian, and one of a handful of patients in the world, to receive an experimental gene therapy for a rare hereditary eye disease called Leber congenital amaurosis (LCA). There is no treatment for the disease, which eventually leads to total blindness.

Mr. Turner took part in an experimental procedure carried out by researchers at the University of Florida in Gainesville. Two more teams in the United States and Britain, each working separately on similar tests, reported their successful findings earlier this week in the online edition of the New England Journal of Medicine.

Within weeks, the patients who took part in these trials reported varying degrees of vision improvement; being able to see a mole on a loved one's face, leaves on a tree, a few lines on an eye chart, and bright blue skies.

If further tests show the treatment works, experts say the gene therapy - which involves replacing faulty genes with normal ones - has the potential to reverse blindness from other kinds of inherited eye diseases.

"There are so many inherited eye diseases that it makes great sense to start pursuing the others," said Barry Byrne, director of the Powell Gene Therapy Center at the University of Florida, who is leading the trial in which Mr. Turner received his treatment.

Dr. Byrne stressed that the current trial is meant to ensure that the treatment is safe. Further research will reveal if the therapy could be a potential cure for those with LCA, a degenerative disease that affects more than 2,000 North Americans.

"I want to get the word out to people who have similar conditions," Mr. Turner said. "I want to spread hope so these people have something to look forward to."

LCA is a group of inherited blinding diseases that damages light receptors in the retina. It usually begins stealing light in early childhood and causes total blindness during a person's 20s or 30s.

When Mr. Turner was a baby, his parents noticed he would respond to their voices, but not their faces. Growing up, he had tunnel vision and difficulty seeing, especially at night. Faces were fuzzy, tree tops looked like green lumps and the sky always looked blue-grey. On a sunny day, it took his eyes 40 minutes to adjust to the dimness after he headed inside.

When Mr. Turner was 7, his father's job took the family to Philadelphia. In an incredible stroke of luck, they learned that one of the world's leading LCA researchers, a University of Pennsylvania researcher named Sam Jacobson, was based in the city.

"Meeting him was just the most incredible thing," says Laura Turner, Mr. Turner's mother. "We still scratch our heads."

It was through Dr. Jacobson that Mr. Turner eventually connected to researchers in Florida, who were gearing up to begin a clinical trail. Two other teams - one at the University of Pennsylvania and one in Britain - were doing similar studies. The treatment had already proven successful in dogs. Now they wanted to try it in humans. Mr. Turner volunteered along with eight other patients.

On Jan. 31, doctors at Shands hospital at the university inserted a needle into Mr. Turner's eye, injecting millions of copies of a working gene, called RPE65, into the small area between the retina and the back the eye. Patients who have LCA have a faulty version of the RPE65 gene. Only the right eye was treated - the worst one - in case anything went wrong.

Three days later, Mr. Turner caught his first glimpse of a bright blue sky, and shed tears.

"The degree that Dale, in particular, responded was very rewarding," Dr. Byrne said. "It really pushes us toward doing this in a more comprehensive way, toward bigger areas, or younger patients, or both eyes."

While the prospect of a cure is exciting, it can also be scary for people living with limited or no sight, said Maureen Hartnett of Oakville, Ont., who has a son and daughter, ages 15 and 18, with LCA. They read in braille, and daughter Roisin, 18, who studies at Queen's University in Kingston, has a guide dog.

"If they said, 'there's a cure, and you're going to be able to see,' they wouldn't just jump out and say, 'Yes' Because the whole world would change on them," Ms. Hartnett said. "They've both been able to carry on with their lives without sight. Then all of a sudden if you could see, it wouldn't make any sense. ... They wouldn't be able to read. All these things are scary for them."

About 5 per cent of Mr. Turner's right eye was treated and soon doctors will treat the rest, as well as his left eye.

Now in his fourth year of a business degree at Trent University, he hopes his postgraduate education won't include the seeing aides that help him read his textbooks.

"I feel like a weight has been lifted off of me," he said. "The thought of maybe one day down the road ... losing my vision. That's pretty scary. To know there's something preventing that from happening is incredible."

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