This year marks a watershed moment in addressing Huntington’s disease, a rare yet impactful form of dementia. Researchers have achieved a groundbreaking milestone with an experimental gene therapy that effectively slows the advancement of this debilitating condition for the first time ever. This represents a significant breakthrough in the search for viable treatments.

According to Sarah Tabrizi from University College London, “This is a monumental step forward,” referencing the successes observed in late-stage trials earlier this year. “We now understand that Huntington’s disease is potentially treatable, presenting us with a tremendous opportunity.”

Huntington’s disease stems from a genetic mutation that causes the normally benign huntingtin protein to cluster into harmful aggregates within the brain. This accumulation leads to gradual deterioration of brain cells, hindering movement, cognitive function, and emotional well-being. Currently, no approved treatments halt the progression of symptoms, and care primarily focuses on supporting affected individuals.

The novel treatment, dubbed AMT-130, directly targets these abnormal proteins by delivering genetic instructions to brain cells, instructing them to produce molecules that inhibit protein formation.

In a recent investigation, Tabrizi and her team administered high doses of AMT-130 to 17 patients with Huntington’s disease. They evaluated changes in cognitive, motor, and daily functioning over a three-year period compared to a control group. Preliminary results released by the drug’s manufacturer, biotechnology firm uniQure, indicate a remarkable 75% average slowdown in symptom progression.

“Huntington’s disease treatment has faced numerous challenges in recent years,” stated Sarah O’Shea at Mount Sinai in New York, who was not involved in the study. “This accomplishment is significant, not just in delaying the disease’s progression but also because it arrives at a crucial time when hope is desperately needed.”

Nevertheless, this innovative treatment does come with its own set of challenges. Tabrizi explained that the 12- to 18-hour surgical procedure required to deliver the treatment deep within the brain is only accessible in a limited number of facilities in select countries, including the U.S. and U.K. Additionally, if approved, the treatment is likely to be prohibitively expensive. “Will it be accessible to all? Achieving that will be a challenge,” she remarked.

To navigate these hurdles, Tabrizi and her team are developing an alternative therapy that involves injecting the fluid around the spinal cord. “We’re currently conducting a Phase I study, and the first patient was treated in November 2024,” Tabrizi noted, with safety results expected by July 2026.

Meanwhile, uniQure’s executives revealed in September plans to submit AMT-130 for FDA approval in early 2026. However, the submission timeline is now uncertain, as the FDA has expressed concerns regarding the study plan and the control group, which consists of *non-treatment* patients drawn from a database.

The absence of a proper control group complicates the ability to discern the placebo effect on results. Still, given the surgical nature of the treatment, establishing such a group poses significant challenges.

“We firmly believe that AMT-130 holds substantial potential to benefit patients and are dedicated to collaborating with the FDA to expedite access to this treatment for families in need across the U.S.,” stated Matt Kapusta, CEO of uniQure.