Huntington’s disease (HD) is a rare, inherited neurological disorder that typically appears in people during their late 30s or early 40s. The disease gradually impairs movement, balance, cognitive abilities, and emotional stability. There is currently no cure for HD.
Dr. Henry Paul Moore, a neurologist at the University of Miami Health System, described the impact of the disease: “they’re at their peak of productivity, when they have their kids and are establishing careers. It’s devastating for families.”
A recent small clinical study has tested a new treatment that may offer hope to those affected by HD. Patients who received a high dose of the therapy showed a 75% slower rate of disease progression over three years compared to those who did not receive it.
Until now, available treatments only managed symptoms without altering the course of the disease. Previous attempts to halt progression in about 100 clinical studies have been unsuccessful.
“I look at this with cautious optimism,” said Dr. Moore. “But there are a lot of things still up in the air. We have to be careful how we extrapolate from this study.”
According to the Huntington’s Disease Society of America, around 41,000 people in the United States live with HD. The prevalence in North America is higher than globally, which may be due to genetic factors and more widespread diagnostic testing.
HD is an autosomal dominant disorder; each child of an affected parent has a 50% chance of inheriting the gene mutation responsible for the condition.
The therapy tested in the trial involves a one-time brain infusion using AMT-130, developed by Amsterdam-based uniQure. This gene therapy uses an engineered virus to deliver instructions that prevent production of the harmful protein caused by mutations in the HTT gene on chromosome 4.
The procedure requires MRI-guided brain surgery lasting between 12 and 18 hours. In total, 29 patients completed treatment—12 received a low dose and another 12 received a high dose—and were monitored over three years against data from a global HD registry. According to uniQure, those receiving higher doses experienced significantly slower decline both overall and on measures assessing independence. Levels of neurofilament light protein—a marker for nerve-cell damage—were also lower among treated participants.
Following news coverage about these results, Dr. Moore and his colleagues at UHealth (one of four Huntington’s Disease Centers of Excellence in Florida) received inquiries from patients and families seeking information about access to this therapy.
“There’s a lot of hope,” Dr. Moore explained. “We got calls asking, ‘Is this a cure? Where do I get it?’ But this is only a [first] step.”
He noted that while initial results are promising and suggest good tolerability for the treatment, limitations exist: The study was small, not peer-reviewed yet, used external controls rather than placebo groups within the same trial period—which can introduce bias—and required complex surgical procedures likely to be costly.
Dr. Moore added: “the therapy appears to be well tolerated.”
It remains uncertain if or when larger trials will begin at additional sites as uniQure originally planned to seek accelerated approval from U.S. regulators but was advised by the Food and Drug Administration (FDA) that current data would not support such an application at this time.
UniQure officials called this feedback “unexpected” but stated they would continue working with FDA “to determine the best path forward to rapidly bring AMT-130 to patients and their families in the U.S.”
Dr. Moore supported regulatory caution: “I agree with this regulatory setback. Science has to prevail when approving a medication, even if the disease being managed is as terrible as HD. If there are not enough elements to consider therapy efficacious and safe, the FDA cannot allow the medication to be on the market and be used on our patients.”
For those living with Huntington’s disease—a fatal condition marked by severe symptoms—even incremental progress could represent meaningful hope if further studies confirm these findings.
