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Batten disease

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Rochester: Batten disease
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Staring at a computer screen wasn't exactly what Nicole Newhouse envisioned for her career.

It didn't take long for her to find a subject that sparked a new passion.

Newhouse said, "You have children that are dying. Point blank, you have children that are dying."

Newhouse is enrolling patients in the first controlled clinical trial for batten disease.

"We don't have a cure right now. We can't tell parents 'you take this and your child's going to be ok," said Newhouse.

Batten disease is a neurological disorder that usually appears in children ages four to eight years old.

Early symptoms of the disease include sudden vision problems. That's quickly followed by a loss of motor skills, mental impairment and eventually death.

"Try to imagine what it's like for the parents to watch their child basically dying before their eyes. Over many years, it's the kind of thing that as a physician you see and think you know I want to do something to help," said Dr. Jonathan Mink.

Inspired by these personal stories, researchers at the University of Rochester made a breakthrough. They discovered a specific immune response to batten disease not found in patients with other types of neurodegenerative disorders.

"The fact that we may have a target molecule that we might want to manipulate, is something I didn't believe we'd be doing in 2004 when we started in 1996," said researcher David Pearce.

Using an immune suppressing drug, developed to prevent organ rejection, doctors were able to target these antibodies and slow the progression of the disease in animal models.

"It's already FDA approved in children. So it's not as if we're in the drug development process where you may have clinical trials and then many, many years later until it's available and on the market," said Dr. Erika Augustine.

This clinical trial, the first of its kind, will include 30 patients who are already showing symptoms, beyond the science, those behind the study say it's that personal connection that's driving their search for answers.

Newhouse said, "While it is a rare disease, I think we will have a pretty good outcome."

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