USF research may lead to Huntington's cure

Dr. Joette Giovinco reports

- Watching a loved one struggle with an incurable disease is incredibly painful. Knowing the disease could strike you next might make it even worse. 

Joshua Leary is 18-years-old, but is acutely aware of how it feels to watch someone deteriorate, knowing it could be him soon. Leary spent his childhood watching his aunt decline in the grips of a hereditary neurological disease. 

"She wasn't able to walk as much anymore, she was losing her balance. I just didn't think it would be as bad as it is now," Joshua recalled.

His aunt, Pam Geer Thompson, now sleeps on a mattress on the floor in a long-term care facility. Pam suffers from Huntington's Disease, sometimes called HD. The disease affects the brain's motor functions, causing Huntington's chorea, an uncontrolled flailing of extremities. Because the disease has no cure, many family members, like Joshua, opt out of testing.

"It's kind of scary to think about that I could have it," he said.

It's even more scary for Joshua since discovering his mother also had the disease. Candace Leary was diagnosed six years ago.

"I think it's a slow progression, but you never know what you're' gonna get one day to the next," she explained.

Candace's symptoms are worsening. Her speech has been deteriorating over the last year and a half. Coupled with balance difficulties, Candace carries a card in her wallet to explain her condition to others.

"I have been stopped and I have pulled out that card," she said, describing a time she was pulled over for speeding, and then suspected of driving under the influence, due to her speech. 

"One guy, I'm fighting with about our air conditioner, I was talking to him and he accused me of being drunk," she said of an encounter with a less-understanding individual.

Dr. Juan Sanchez-Samos is a neurologist and is Candace's doctor. He's been studying HD his entire career, including a large a cluster of patients in Venzuela. Now, at the University of South Florida, he's heading up a Center of Excellence, one of only about 20 in the U.S.

Along with chorea, he says many patients suffer from depression and obsessive compulsive disorder.

"They lose their intellectual capacity. They become demented. That starts out with executive function, concentration," Dr. Sanchez-Samos explained. "They can't hold down a job."

Medications can help, but Dr. Sanchez-Ramos believes something better is on the horizon.

"I'm convinced. I feel so optimistic. I never dreamed I'd see a cure," he said.

That cure may come in the form of a nasal spray. USF is studying a new way to get an experimental drug into the brain, past it's protective barrier, and into the cells.

"We made nano-particles that carry like a Trojan horse, the drug, and you can put it in a spray and it's taken up by the olfactory nerve into the brain. And in the brain, it distributes throughout," he explained.

Another technology being developed elsewhere is called the Brain Shuttle, and allows doctors to insert medicine into the brain that would normally be filtered out by the Blood Brain Barrier (BBB).

In HD, defective repetitive sequences in the genes create instructions, blueprints, that code for abnormal proteins. Over time, those proteins accumulate, destroying the brain. The drug, IONIS-httrx, is delivered by a Brain Shuttle, and it blocks those instructions, so the proteins are no longer made. USF hopes their nasal spray will be able to deliver the drug without an injection.

"If you prevent that gene from being expressed you don't have the illness and you stop the illness in it's tracks," Dr. Sanchez-Samos explained.

And while the future is promising for young people like Joshua, should he inherit the condition, the reality for Candace is, her dependence on family will grow.

According to her GoFundMe page, Candace and all four of her sisters carry the gene for HD. 

"They do everything - all the house work , my husband does the laundry, does grocery shopping, he works all day and comes home and makes dinner for me. I couldn't ask for anything more," she says.

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