Drug trial bringing hope to local Huntington’s disease advocate

Drug trial bringing hope to local Huntington’s disease advocate

Madison mom Shana Verstegen lost her own mother to a rare genetic disease that slowly robs patients of their function and leads to their deaths: Huntington’s disease.

“It was a long, sad, scary road,” Verstegen said of her mom Debby’s journey with Huntington’s. “They say it’s a combination of Alzheimer’s, ALS, Parkinson’s (disease).”

Debby Martin died in 2013.

“Over time, the person loses their ability to walk, chew and swallow and basically their ability to function on their own,” Verstegen said.

Carriers of the gene have a 50/50 chance of passing it onto their children. Verstegen tested negative.

This week, a drug trial is giving advocates such as Verstegen hope that Huntington’s disease could become a thing of the past.

CNN reports that trials of a drug called Ionis-HTTRx showed the drug to be safe in humans and potentially effective at lowering levels of the protein that causes the disease in the nervous systems of trial participants.

Leora Fox, manager of research and mission programs at the Huntington’s Disease Society of America, said the drug is essentially a form of gene therapy that interferes with the RNA that translates the Huntington’s gene into huntingin proteins, stopping their production.

“The theory is that if we’re able to reduce levels of huntingtin protein, which this drug has shown that it does, then that could have implications for slowing or reversing symptoms,” Fox said. “This is the first drug that would target the underlying mutation.”

Fox said more trials need to be done to prove the drug’s effectiveness, but she’s “cautiously optimistic” that it could eventually lead to a cure in a few years.

“We’re all very excited over here,” Fox said. “We hope to put ourselves out of business one day.”

Verstegen said she knows, somewhere up above, her mom is smiling this week.

“She’s partying like crazy up there,” Verstegen said.

In Madison, UW Health features a Center for Huntington’s Excellence, one of 40 around the country.

For more information on Huntington’s disease, visit the HDSA’s website.