ST. LOUIS — Scientists may have reached a breakthrough in the fight against Huntington’s disease, a rare and fatal inherited brain disorder with no cure. For the first time, a gene therapy has been shown in clinical trials to significantly slow the progression of the disease, raising cautious optimism among researchers and families.
Huntington’s disease, caused by a defective gene passed from parent to child, gradually strips people of their ability to move, think and live independently. Each child of a person with the disease has a 50% chance of inheriting it. Symptoms often appear in a patient’s late 30s or early 40s, though onset can vary.
Dr. Isabel Alfradique-Dunham, a neurologist at Washington University in St. Louis who specializes in neurodegenerative disorders, said the study’s results are “very exciting,” but should still be viewed with caution.
“All we had available were treatments that could minimize the severity of the symptoms,” she said. “But how the disease progressed, it was something that we couldn’t control.”
“The main goal of the study, first of all, was to make sure that the therapy was safe and there were no major risks,” Alfradique said. “In terms of slowing down the disease, they (the results) were what we call mainly secondary outcomes… They help us to lay the ground to do more extensive studies involving more people.”
The experimental therapy works by delivering the therapy via a benign virus directly into the brain through surgery. The virus carries material that reduces production of the abnormal protein caused by the faulty gene, the protein believed to drive brain cell death in Huntington’s.
In early clinical trials, the therapy slowed disease progression by as much as 75% in some patients. But Alfradique urged caution, saying that the study was small (in sample size) and involved only patients in the early stages of the disease.
“It’s encouraging, but there are so many questions to answer,” she said. “Once we expand to more people, are we going to see the same beneficial results? Is this the same type of benefit that we would get with folks with more advanced disease? What about people who have not even started with symptoms?”
Testing is available for people to see if they will get the disease, so this does raise questions for those individuals whose symptoms haven’t shown themselves yet. Would I get this brain surgery even though my disease hasn’t shown itself yet?
While the company sponsoring the trial has not reported major complications, Alfradique said larger studies are needed to fully assess safety.
For families, the announcement brings a sense of cautious hope. Hope is “A word that has always been connected to Huntington’s,” Alfradique said. “We’ve had promising therapies in recent years and we were disappointed when the results came out. It is indeed very exciting, but we need more information before having more definitive answers.”
The company behind the therapy, uniQure, plans to submit an application to the FDA for possible regulatory approval in early 2026, a process that could take a year.
Until then, Dr. Alfradique says patients and families should remain hopeful but realistic. “I do think we need more information before having more definitive answers for whether this is going to be the final treatment for Huntington’s.” she said.
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