Charlotte Family Funds Research Into Gene Therapy for Rare Batten Disease

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Wednesday, March 6, 2013

Karen Garloch

Laura King Edwards was a high school junior when her sister Taylor was born in 1998.

Despite the age difference, they became very close.

When Taylor was 1, Laura’s summer job was babysitting, five days a week, 10 hours a day. They spent afternoons curled up on the couch, watching TV or taking naps.

“She called me ‘Rar Rar’ before she could say my name,” Laura recalls. “I called her ‘T.’”

Taylor taught herself to read at 3 and excelled in kindergarten. But in first grade, she began having trouble with homework and with her vision. She was diagnosed with retinitis pigmentosa, an inherited disorder that causes a gradual vision loss.

But that turned out to be wrong. In 2006, just three weeks before her eighth birthday, Taylor got an even more devastating diagnosis – neuronal ceroid lipofuscinosis, also called Batten disease.

When Laura Googled the words, she read only a few sentences before she started to cry.

Batten disease is a rare, inherited neurodegenerative disease that results in the death of neurons in the brain, retina and central nervous system.

Early symptoms are vision loss, seizures, clumsiness and personality changes. Eventually, it leaves children blind, bedridden and unable to communicate. There is no known cure or effective treatment.

To get the disease, Taylor had to inherit a defective copy of a particular gene from each of her parents. Her sister Laura got one good copy and one bad copy, so she’s a “carrier,” which means she’s healthy but could pass the gene on to her children.

“Because I got lucky and didn’t get it, I want to do everything in my power to make sure that other families and other children don’t have to endure what my sister has had to endure,” said Laura, a senior marketing specialist for Novant Health.

Through a foundation called Taylor’s Tale, Taylor’s family has joined with other foundations around the world to give $300,000 to the UNC Gene Therapy Center for a two-year study that could hold hope for patients with Batten disease.

Dr. Steven Gray, an expert in virology and gene therapy at the UNC center, is leading the research that will piggyback on work he has already done with another rare inherited disease, giant axonal neuropathy.

The idea is to replace defective genes with normal copies. “It’s actually fixing the problem at the level of DNA,” Gray said.

In recent years, Gray and his colleagues have shown they can improve the health of mice with giant axonal neuropathy. They packaged normal genes inside a harmless virus that served as a delivery vehicle, “like a molecular UPS truck,” Gray said.

Then they injected the virus into the spinal fluid of ailing mice to send it throughout the central nervous system. Although it wasn’t a cure, the mice showed improvement. And UNC plans to apply for permission from the Food and Drug Administration this year to test the therapy in children.

Gray said Batten disease is one of several diseases that could benefit from the same approach, Gray said.

In the next six months, he’ll begin trying gene therapy on mice with two types of Batten disease, infantile (which Taylor has) and late infantile (which progresses more slowly).

“I think it’s got a good chance,” Gray said. “But first we’ve got to roll up our sleeves and do the work.”

Laura and her family are hopeful. Today Taylor is 14. She’s blind, has seizures and walks only with assistance. She loves to sing, but Batten disease will one day steal her speech.

“It’s getting very hard,” Laura said. “But her courage and her outlook has taught me a lot. She’s never once complained about the card she drew in life.”

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Source: Charlotte Family Funds Research Into Gene Therapy for Rare Batten Disease

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