A revolutionary gene therapy, AMT-130, has demonstrated remarkable success in slowing the progression of Huntington's disease, a devastating inherited neurodegenerative disorder. In a phase 1/2 clinical trial, patients receiving the highest dose experienced a 75 percent reduction in disease progression over three years. This significant finding, while not yet formally published or peer-reviewed, represents a potential paradigm shift in treating this debilitating illness.
Developed by uniQure, AMT-130 works by delivering custom-made DNA directly into the brain via neurosurgery. This DNA contains instructions that prevent cells from producing the mutant huntingtin protein, the culprit behind the neuronal damage characteristic of Huntington's. The researchers believe a single dose could provide lifelong benefits.
The trial involved 29 participants, with 17 receiving a high dose and 12 receiving a low dose. Researchers tracked a dozen patients from each group over three years, comparing them to untreated individuals. The results were stunning: the high-dose group exhibited a 75 percent slower disease progression. While not achieving the initially hoped-for curative results, this substantial slowdown represents a landmark achievement, potentially offering patients years of improved quality of life.
Lead researcher Ed Wild from UCL's Huntington's Disease Center emphasizes the incredible bravery of the participants who underwent major neurosurgery for this pioneering treatment. He highlights the positive impact on patient well-being, noting that some trial participants have experienced improved stability and even returned to work.
The rapid progress of AMT-130, from promising preclinical data to human trials in approximately a decade, is noteworthy. UniQure is currently conducting further clinical trials in the US and Europe and plans to submit a Biologics License Application to the FDA in the first quarter of 2026. The FDA has already granted Breakthrough Therapy and Regenerative Medicine Advanced Therapy designations, indicating a potential fast-track approval process. The complete trial results will be presented at the HD Clinical Research Congress in October, marking a crucial step toward making this life-changing therapy available to those affected by Huntington's disease.
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Originally published at: https://www.sciencealert.com/breakthrough-gene-therapy-slows-huntingtons-disease-by-75
