Experimental gene therapy found to slow Huntington’s disease progression, company says

By Jacqueline Howard, CNN

(CNN) — An experimental gene therapy was found to slow the progression of Huntington’s disease in a “pivotal” Phase 1/2 study, according to drugmaker uniQure, marking a major step toward a potential first genetic treatment for the condition.

The Amsterdam-based company announced Wednesday that patients who received a high dose of its AMT-130 therapy for Huntington’s disease saw disease progression slow by 75% after 36 months.

The treatment was “generally well-tolerated,” with a “manageable” safety profile, the company said. The full study results have not yet been published in a peer-reviewed journal.

UniQure said it plans to submit its data on AMT-130 to the US Food and Drug Administration in the first quarter of 2026. If the treatment is approved by the FDA, it could launch later next year.

“These findings reinforce our conviction that AMT-130 has the potential to fundamentally transform the treatment landscape for Huntington’s disease, while also providing important evidence supporting one-time, precision-delivered gene therapies for the treatment of neurological disorders,” Dr. Walid Abi-Saab, chief medical officer of uniQure, said in Wednesday’s announcement.

Huntington’s disease is an inherited and progressive brain disorder caused by a genetic mutation. The disease triggers nerve cells in parts of the brain to gradually break down and die, leading to uncontrolled movements, emotional or behavioral problems, and loss of cognition. The disease is rare. It’s estimated to affect up to 7 in 100,000 people, most often of European ancestry, and appears to be less common among other groups.

There is currently no treatment that can cure, stop or reverse Huntington’s disease, but some of the symptoms can be treated.

The new study, conducted with the University College London, included 29 people with Huntington’s disease who were treated with either low or high doses of the AMT-130 therapy and followed for 36 months.

The therapy is administered surgically, using a technique in which it is injected directly into the striatum, a part of the brain involved in cognitive, emotional and motor functions as well as certain processing. In people with Huntington’s disease, neurons in the striatum are among the most affected.

The company noted that the most common adverse events in the study were related to the surgical procedure and all were resolved.

Once the therapy was administered, the researchers examined disease progression in the participants based on a rating scale of motor, cognitive, behavioral and functional assessments, among other factors. They also measured levels of neurofilament light protein in spinal fluid, which can be a signal of neurodegeneration.

Elevated levels of the protein have been associated with greater severity of Huntington’s disease, but during the study, there was an average reduction of 8.2% in cerebrospinal neurofilament light protein among the participants.

The Huntington’s Disease Society of America remains “cautious” but has “immense hope” after seeing the new study results, Amy Gray, the nonprofit organization’s president and CEO, said Wednesday.

“For the approximate 42,000 Americans and their families living with Huntington’s disease, this is a truly transformative development,” Gray, who was not involved in the research, said in an email.

“For decades, there have been no therapies to slow disease progression—only treatments to manage symptoms,” Gray said. “While there is still a path to approval through the FDA, this data brings us closer than ever to a future where we can change the course of Huntington’s disease.”

Dr. David Rubinsztein, professor of molecular neurogenetics and deputy director of the Cambridge Institute for Medical Research, called the trial findings “very promising” and “exciting.”

“They suggest a clear slowing of disease progression measured with a range of tools,” Rubinsztein, who was not involved in the study, said in a statement distributed by the UK-based Science Media Center on Wednesday.

Yet “the early stage trial that they have reported involves a modest number of patients and much of the control data were not from placebo-controlled patients but from existing natural history data of Huntington’s disease patients,” he added. “No data were reported from the low-dose group but the impression from the press release was that no significant benefits were seen with the low dose (which is fine if the high dose works and is well-tolerated).”

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