University of Florida Shines a Light on Rare Disease: Leber’s Congenital Amaurosis

March 16, 2013

Creed Pettit squirms and giggles like most 4-year-old boys. But shortly after he was born, he displayed worrisome behavior.

“He was a very happy child until it got dark,” said his mother, Sarah. “He ate looking up and anything chest down he would trip over.”

Creed was diagnosed with a mild form of autism, but by the time he was two and a half years old, he was legally blind, so doctors searched for other answers. Creed’s bloodwork revealed LCA (Leber’s Congenital Amaurosis), a retinal degenerative disease, and further testing showed it to be a type of LCA that responds to gene therapy.

“It was an incredibly joyous occasion,” Sarah Pettit said.

Now Creed is enrolling in a Phase III trial of a gene therapy that has helped people in trials recover most of their vision.

Success stories like Creed’s can be as rare as the prevalence of conditions such as his. Rare diseases by definition number about 7,000 worldwide, affecting some 30 million people — about half of whom are children.

Most rare diseases are caused by genetic mutations, and the boon of genetic testing is making diagnoses quicker and cheaper, said Dr. Barry Byrne, director of the University of Florida’s Powell Gene Therapy Center.

Once the genetic mutations are revealed, “that gives us the basis for treating those conditions by gene therapy,” Byrne said. “The first step is understanding the molecular cause. And then we evaluate whether there’s a way to restore the gene function.”

Read more at Written by Kristine Crane.

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