uniQure’s Huntington’s Disease Trial Shows Promising Results
By Bio-IT World Staff
October 16, 2025 | Last month, uniQure announced promising results from their Phase I/II study of AMT-130, the company’s gene therapy to treat Huntington’s disease. A participant pool of 29 patients in the early stages of Huntington’s disease was categorized into two groups—low-dose and high-dose—and compared to a control group of 1,600 untreated Huntington’s patients at similar disease stages.
Compared to the low-dose group, those in the high-dose group showcased more consistent favorable results in functional, motor, and cognitive endpoints. The high-dose group was followed for three years, and it was found that the high-dose recipients showed a 75% slowing of disease progression when measured with the composite Unified Huntington’s Disease Rating Scale (cUHDRS). There was also a 60% slowing of disease progression when measured by Total Functional Capacity (TFC). This group also produced about 8% less neurofilament light, a cerebrospinal fluid that is a marker for dying neurons.
“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,” said Walid Abi-Saab, chief medical officer of uniQure, in a press release.
The study not only showed great promise for Huntington’s disease but also for other neurodegenerative diseases, such as Alzheimer’s disease and amyotrophic lateral sclerosis (ALS), according to Russ Lebovitz, CEO of Amprion, a company advancing diagnosis of neurodegenerative disorders through seed amplification testing. “Because the three recent successes all use complementary technologies to reduce concentrations of misfolded proteins, they reinforce the validity of this general approach for most if not all neurodegenerative diseases.”
To administer AMT-130, the participants received a surgical procedure where small holes were drilled into the skull. A catheter was then inserted into the caudate nucleus and putamen, the main regions involved in Huntington’s disease, in a one-time 12-hour procedure, though Lebovitz stated that a few of the procedures took up to 18 hours. AMT-130 was then directly infused into the brain. Despite using an invasive method, there were very little side effects reported from the surgery.
Nonetheless, brain surgery is simply not efficient nor cost-effective to administer AMT-130 for all Huntington’s patients. Thankfully, it doesn’t seem like that will be the standard procedure. Lebovitz cites the SOD1 target for ALS, a minimally invasive procedure where another type of small RNA is injected into cerebrospinal fluid, as a potential future approach.
“The proof of concept is what’s important,” Lebovitz explains. “I don't think that anyone believes that we can treat all patients with an 18-hour procedure. However, if the barrier to these drugs was getting [in the way of] adding enough of the drug to a very deep region of the brain, then kudos to them for understanding that. And now, the second generation can be something more accessible and scalable that hits the same site.”
The study also brings attention to the importance of early diagnosis. Catching a neurodegenerative disease early on means preventing it from getting worse. For Lebovitz and Amprion, they develop tools that look for very early diagnosis at actual misfolded proteins that are present, active, and spreading. “I truly would argue that the combination of the earlier diagnosis plus something that slows or stops the progression of the disease is the answer here,” adds Lebovitz.
uniQure will submit these results to the FDA later in 2025 to seek regulatory approval in 2026. The company has stated that the drug’s price will be comparable to other gene therapies, which are placed at $2 million or more.