Researchers have announced the first effective treatment to slow the advance of Huntington’s disease, a hereditary condition that progressively damages the brain and leads to severe physical and cognitive decline.
The innovative gene therapy, developed by biotechnology firm uniQure, has demonstrated remarkable results in early clinical trials, potentially offering extended years of improved quality of life for those affected by this incurable illness.
Huntington’s disease, which impacts movement, thinking, and emotional regulation, is triggered by a genetic mutation in the huntingtin gene. This flaw causes a harmful protein to accumulate, gradually destroying nerve cells in the brain.
Symptoms often emerge in a person’s 30s or 40s, leading to a fatal outcome within about 20 years. The condition affects families deeply, with a 50% inheritance risk if one parent carries the mutation.
The new approach, known as AMT-130, employs a one-time procedure to target the root cause. During an extensive surgical session lasting 12 to 18 hours, surgeons use advanced MRI guidance to inject a modified, harmless virus into key brain areas—the caudate nucleus and putamen.
This virus carries custom DNA that instructs brain cells to produce molecules capable of blocking the production of the toxic protein.
Trial leaders, including Professor Sarah Tabrizi from University College London’s Huntington’s Disease Centre and Professor Ed Wild from the National Hospital for Neurology and Neurosurgery, expressed profound optimism about the outcomes.
“The level of slowdown we’ve observed is beyond what we dared to hope for,” Prof. Tabrizi stated, highlighting how the therapy could delay typical yearly deterioration to a four-year timeline.
In the study involving 29 participants, those receiving a higher dose experienced an average 75% reduction in disease advancement over three years.
This was measured through assessments of cognitive abilities, motor skills, and daily functioning.
Additionally, biomarkers in spinal fluid indicated preserved brain cell health, with neurofilament levels dropping rather than rising as expected in untreated cases.
Participants reported tangible benefits: one individual, previously forced into medical retirement, has resumed employment, while others maintain mobility longer than anticipated.
Side effects were manageable, including temporary inflammation leading to headaches or confusion, often treated with steroids.
Prof. Wild described the findings as transformative, noting the emotional weight of the moment. “Seeing real progress in a disease that’s so relentless is incredibly moving,” he said.
The therapy’s design suggests it could provide lifelong protection, as brain cells do not regenerate like other tissues.
Around 75,000 people in the UK, US, and Europe live with Huntington’s, with many more at genetic risk.
UniQure plans to seek US regulatory approval in early 2026, aiming for market availability later that year, followed by discussions in the UK and Europe.
While the treatment’s high cost and surgical demands may limit access initially, experts view it as a pivotal step. “This opens doors to broader therapies,” Prof. Tabrizi added, mentioning ongoing work on preventive trials for gene carriers without symptoms.
For individuals like Jack May-Davis, a 30-year-old from Sussex who inherited the gene from his late father and grandmother, the news brings renewed hope.
Having witnessed his father’s decline from behavioral changes to full-time care before passing at 54, May-Davis has contributed to UCL research. “This development feels overwhelming—it’s like glimpsing a longer, brighter future,” he shared.
As gene therapies evolve, with the UK’s NHS already funding multimillion-pound treatments for conditions like hemophilia, affordability remains a key challenge.
Yet, this breakthrough signals a shift from managing symptoms to altering the disease’s course, inspiring optimism for affected communities worldwide.
