Gene therapy for Huntington’s disease showed great promise in 2025

This year marks a turning point in the search for a cure for Huntington's disease, a rare but devastating form of the disease. dementia. Scientists have found that an experimental gene therapy slowed the progression of the disease – the first time this has been achieved. Despite the enormous feat, delivering the therapy is challenging, so researchers are already working on more practical interventions.

“This is a giant step forward,” says a team member Sarah Tabrizi at University College London, following the success of an existing therapy in late-stage research earlier this year. “This suggests that Huntington's disease is potentially treatable. This gives us a huge window of opportunity.”

Huntington's disease is caused by a genetic mutation that causes the normally harmless protein huntingtin to accumulate in toxic clumps inside the brain. Over time it kills brain cells, leading to difficulties with movement, thinking and mood. There are no approved treatments that prevent symptoms from worsening; instead, interventions focus on supporting people throughout the process.

But an experimental therapy known as AMT-130 targets these abnormal proteins by delivering genetic instructions to brain cells, directing them to create a molecule that blocks their production.

In the study, Tabrizi and her colleagues gave 17 people with Huntington's disease high doses of the drug and then compared their cognitive abilities, movement and daily functioning with those of untreated people three years later. The drug's developer, biotech company uniQure, shared preliminary results in September that showed treatment slowed the progression of the disease on average by about 75 percent.

“We've had so many failures in treating Huntington's disease in the last couple of years,” says Sarah O'Shea at Mount Sinai in New York, who was not involved in the study. “So this was huge, not only because it was a breakthrough in terms of slowing the progression of the disease, but because it was a breakthrough in terms of slowing the progression of the disease. [because] it came at a time when we really needed that hope.”

However, treatment is not without setbacks. It is delivered deep into the brain in a 12- to 18-hour operation—an operation that few institutions can do, even in countries like the U.S. and U.K., Tabrizi says. Moreover, if it were approved for use, it would almost certainly be prohibitively expensive. “So, do I think he'll be able to reach everyone? It won't be easy,” she says.

To get around this problem, she and her colleagues developed a similar treatment that is injected into the fluid surrounding the spinal cord. “This is currently in a phase I study. We dosed the first patient in November 2024,” Tabrizi says, noting that results, which should inform us about the safety of the approach, are expected around July 2026.

Meanwhile, uniQure executives said in September that they plan to submit AMT-130 to the US Food and Drug Administration (FDA) for approval in early 2026. statement in November, they said the timing of applications was now unclear after the FDA expressed doubts about the study's design, particularly its makeshift control group, which consisted of people from a database of people with Huntington's disease who received no intervention.

The lack of a control group in the study makes it difficult to determine the extent placebo effect may have influenced the results. But the invasive nature of the operation makes it difficult to justify such a group.

“We firmly believe that AMT-130 has the potential to provide significant benefit to patients, and we remain fully committed to working with the FDA to determine the best path to quickly bring AMT-130 to patients and their families in the United States,” Matt CubbageCEO of uniQure, the statement said.