AUSTIN (KXAN) — An exceptionally rare and fatal genetic disease may finally have a solution. Huntington’s Disease affects one in ten to twenty thousand Americans. The disease is a mixture of dementia and Parkinson’s, causing cognitive decline and uncontrolled movements.
A genetic disorder, children of a person with Huntington’s have a 50/50 chance of also having the disease. Once symptoms develop, life expectancy typically lasts 10 to 25 years.
“It’s not great for anyone to watch their family members get, like, completely become a different person,” said Talia, a 15-year-old Austin-area teen who has the disease in her family. She has yet to be tested, worried about how the results could change her life.
“I feel like if I got a positive test, I would not be motivated to keep studying, or maybe just to continue trying to build myself as a person,” she said.
This week, doctors University College London (UCL) announced hope. A new gene therapy treatment has shown that it can reduce the progression of the disease by 75% over a three-year period.
“Just having an opportunity of success or just changing your life completely, that would be amazing,” Talia said.
What is Huntington’s Disease?
Huntington’s Disease (HD) occurs when one gene, HTT, repeats part of its sequence over and over again. In most people, this sequence repeats 10 to 35 times. In people with HD, this section repeats 36 to over 120 times, according to the University of California San Francisco.
The replication causes a long strand of protein to be created, which breaks apart. The smaller chunks of protein act as a toxin in brain cells. The disease presents in people between the ages of 30 and 70.
“A lot of times, people don’t know that they even have it in their family. It sometimes hits in people’s 40s, 50s, and by then, you know, families have had their children,” said Talia’s mother.
A possible solution to Huntington’s
The new treatment, developed by uniQuire, uses gene therapy to stop this replication. The treatment, AMT-130, is the first gene therapy tested in people with HD.
Researchers tested 29 patients over 36 months, with half given a low dose of the treatment and the other half given a high dose. High-dose patients saw the 75% reduction.
“I feel a little bittersweet, because for those who are deep into the throes of Huntington’s, we know that most likely this treatment won’t help them, they’re too far gone in the disease,” said Talia’s mother. “For those that are not yet symptomatic, there’s still hope for them, and the fact that it’s happening within our lifetime, hopefully, it’s really promising.”
The company behind the treatment hopes to fast-track its release. They’re hoping to get approval from the U.S. Food and Drug Administration early next year, according to a statement. They’ll then attempt to get approval in the United Kingdom.