Trial slows Huntington's disease progression by up to 75% in gene therapy study

A groundbreaking trial has slowed Huntington's disease progression by up to 75 percent in a group of 29 patients, marking a potential milestone for a condition that has long lacked a cure. The experimental therapy, AMT-130, combines gene therapy and gene silencing techniques delivered directly to the brain in a procedure lasting roughly 12 to 18 hours, guided by MRI imaging. The treatment aims to reduce the amount of the mutant huntingtin protein that drives neurodegeneration while preserving the normal protein essential for brain health.

The trial, conducted by biotech company uniQure, enrolled 29 patients who underwent the brain infusion as part of an early-stage study. Over three years of follow-up, researchers reported a 75 percent slowing of clinical progression on average compared with how the disease would typically advance. In assessments beyond motor symptoms, the study noted that levels of neurofilaments in spinal fluid—markers of neuron damage—would normally be expected to rise as Huntington's progresses. Instead, those levels were lower after three years than at the start of the trial. The results also included functional improvements for some participants: one patient who had retired from work reportedly returned to work, and others remained able to walk longer than anticipated without wheelchairs.

Professor Sarah Tabrizi, director of the University College London Huntington's Disease Centre, said the finding was unexpected in its magnitude. "We never in our wildest dreams would have expected a 75 per cent slowing of clinical progression," she told the BBC. Professor Ed Wild, a consultant neurologist at University College Hospital London, added: "This is the result we've been waiting for." He described the data as breathtaking and acknowledged the emotional impact of seeing a potential paradigm shift in Huntington's care. The pair highlighted that the results represent a significant, early signal rather than a final, peer-reviewed publication.

Huntington's disease is a genetic disorder that attacks the central nervous system, leading to involuntary movements, speech difficulties and memory loss. On average, patients live 10 to 20 years after diagnosis, and there is currently no approved way to halt progression. In the United Kingdom, about 8,500 adults are affected, and in the United States, roughly 30,000 live with the condition. The NHS notes that existing treatments can ease symptoms but do not stop the underlying disease process. The AMT-130 approach targets the root genetic cause by delivering a DNA sequence via a harmless viral vector into brain cells. The system triggers production of microRNA, which reduces levels of the mutant huntingtin protein while preserving the normal variant believed to support healthy brain function.

The therapy is delivered through a direct brain infusion performed under MRI guidance, with the viral vector designed to deliver new genetic material that tampers down the problematic protein. While the early data are promising, scientists caution that the findings come from a small cohort and have not yet been published in full in a peer-reviewed journal. UniQure has released the initial results, and wider confirmation will come from ongoing and planned larger trials required before any regulatory approval could be pursued. If future studies corroborate these findings, AMT-130 could represent a foundational shift in how Huntington's disease is treated and how long patients can maintain independence and quality of life, though researchers emphasise that more work remains to determine long-term safety and effectiveness.