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Clinical Trial For Kids With Rare, Fatal Disease

Kealey Bultena

A treatment developed at Sanford Research is in clinical trial to help kids with a debilitating genetic condition. The FDA fast-tracked the study in part because the condition progresses quickly and children die.

Six patients are part of the Batten Disease trial. One family from the Midwest has a child treated.

Beth and Bryan live in Minnesota. At four years old, their son Blake struggled with fine motor skills. They incorporated occupational therapy. Then Blake needed speech therapy. Then his gross motor skills deteriorated, and he needed physical therapy.

Bryan says more than a year passed as the family entered a crisis.

"In September, we went from a boy that was in preschool to us pulling him out of preschool, because he just wasn’t thriving," Bryan says. "And he was really – something was drastically wrong."

Bryan says genetic testing eventually revealed his son has Batten Disease. The genetic condition impairs neurological processes. Kids go from seemingly typical to wheelchair-bound in a few years. Batten Disease is fatal.

Blake is receiving treatment for Batten CLN6. It’s the type Sanford and research partners have in clinical trial.

Dr. Jill Weimer says scientists use a rare cold virus. She says they strip its harmful material and insert functioning genes. Patients lie on a tilt board to pull the virus toward the brain, and doctors inject the treatment into a child’s spinal column.

"From one single injection, they get that gene therapy," Weimer says. "Hopefully that will integrate so it goes into the genome and hopefully will stay on and be expressed within the brain of Batten’s disease patients for their lifetime."

Weimer says scientists continue research, because they don’t know how long any results last and whether patients need additional therapies.

Bryan and Beth are watching their six-year-old’s improvement. They also have an eye on their other son. Brett is one-and-a-half. His mom says he has Batten Disease, too.

"Your heart stops. You struggle to get one diagnosis, and then you have the baby – at the time, nine months. It’s the same exact diagnosis," Beth says.

Brett isn’t showing symptoms right now. Clinical trial leaders are determining next steps for the treatment and whether they can expand it to include more kids with Batten Disease.

Doctors say the body can’t replace neurons already damaged. They want to find treatment that halts the disease and strengthens the neurons that remain healthy.

Listen to the full conversation on SDPB's Innovation with Cara Hetland.

Kealey Bultena grew up in South Dakota, where her grandparents took advantage of the state’s agriculture at nap time, tricking her into car rides to “go see cows.” Rarely did she stay awake long enough to see the livestock, but now she writes stories about the animals – and the legislature and education and much more. Kealey worked in television for four years while attending the University of South Dakota. She started interning with South Dakota Public Broadcasting in September 2010 and accepted a position with television in 2011. Now Kealey is the radio news producer stationed in Sioux Falls. As a multi-media journalist, Kealey prides herself on the diversity of the stories she tells and the impact her work has on people across the state. Kealey is always searching for new ideas. Let her know of a great story! Find her on Facebook and twitter (@KealeySDPB).
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