Clinical Trial For Kids With Rare, Fatal Disease

Jun 14, 2017

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.