Groundbreaking Findings from uniQure’s Gene Therapy Trial
uniQure N.V. has recently announced significant results from its Phase I/II clinical trial of AMT-130, a pioneering gene therapy aimed at treating Huntington’s disease. This pivotal study reveals a remarkable 75% slowdown in disease progression among patients treated with the high dose of AMT-130 over a 36-month period compared to an external control.
Understanding Huntington’s Disease
Huntington’s disease is a rare inherited neurodegenerative disorder affecting approximately 75,000 individuals across the US, EU, and the UK. The condition is characterized by progressive physical and cognitive decline, resulting from a mutation in the huntingtin gene. This mutation leads to the accumulation of harmful proteins in the brain. Despite advancements in genetic research, there are currently no approved treatments that effectively slow or halt the onset of this devastating disease.
Study Overview and Results
The Phase I/II study focused on the safety, tolerability, and efficacy of AMT-130, involving 29 patients. Participants were divided into two groups: 17 patients received a high dose, while 12 received a low dose of the gene therapy. After a rigorous 36-month follow-up, significant findings emerged. The primary endpoint was met, confirming that patients receiving the higher dose exhibited a 75% reduction in the progression of Huntington’s disease, as measured by standardized rating scales.
Improving Quality of Life for Patients
In addition to disease progression, the study achieved a key secondary endpoint, showing a 60% slowdown in the decline of patients’ independent functioning. Comprehensive cognitive and motor evaluations indicated notable improvements among treated patients, including enhancements in thinking speed, reading ability, and motor skills.
Biomarker Improvements and Safety Profile
Moreover, AMT-130 positively influenced a critical biomarker of neurodegeneration. Patients experienced an average reduction of -8.2% in cerebrospinal neurofilament light protein (CSF NfL) levels. Elevated CSF NfL is often correlated with worsening clinical severity in Huntington’s disease, making this finding particularly promising. Importantly, the therapy was generally well-tolerated, with no new serious drug-related adverse events reported as of June 30, 2025.
Expert Insights and Future Directions
Walid Abi-Saab, Chief Medical Officer of uniQure, expressed optimism about these results, stating, “We are incredibly excited about these topline results… AMT-130 has the potential to fundamentally transform the treatment landscape for Huntington’s disease.” With Breakthrough Therapy and Regenerative Medicine Advanced Therapy designations from the FDA, AMT-130 is poised to address unfulfilled medical needs in Huntington’s disease care.
Looking ahead, uniQure aims to present these findings to the FDA in a pre-Biologics License Application meeting later this year, with an application submission planned for early 2026. This pivotal research reflects the relentless dedication of the uniQure team, investigators, and families involved in the study, opening new avenues of hope for those affected by Huntington’s disease.
Conclusion: A New Era for Huntington’s Disease Treatment
The promising results from uniQure’s AMT-130 trial mark a significant step forward in the search for effective treatments for Huntington’s disease. With continued research and development, there is hope that this gene therapy could soon provide a viable option for patients and their families, transforming lives and offering a brighter future.
