For the first time, scientists have effectively treated an individual with Huntington’s disease, a deadly genetic disorder currently without a cure.
According to the Mayo Clinic, this condition leads to the gradual decay of nerve cells in the brain, resulting in deteriorating movement, cognitive functions, and overall mental health. Typically appearing when a person reaches their 30s or 40s, it can also begin earlier in patients under 20, identified as juvenile Huntington’s disease.
According to a press release, gene therapy company uniQure announced positive results from a study of a gene therapy known as AMT-130.
The therapy works through a neurosurgical procedure that infuses AMT-130 three times on each side of the brain.
This gene therapy involves using a non-disease causing viral vector to deliver a “gene encoding a microRNA” that reduces the level of the huntingtin protein in the brain. This process decreases both the normal and mutant proteins responsible for the disease.
On September 24, uniQure discovered that patients administered with a high-dose of AMT-130 experienced a significant 75% reduction in disease progression at 36 months on the composite Unified Huntington’s Disease Rating Scale and a 60% reduction on Total Functional Capacity.
“I am thrilled that this pivotal study of AMT-130 showed statistically significant effects on both cUHDRS and TFC at 36 months, supported by mean CSF NfL remaining below baseline,” expressed Sarah Tabrizi, M.D., FRCP, FRS, FMedSci, Ph.D., a professor of clinical neurology, director of the University College London Huntington’s Disease Center, and joint head of the department of neurodegenerative disease. “I believe these groundbreaking data are the most convincing in the field to date and highlight potential disease-modifying effects in Huntington’s disease, where an urgent need exists. These data suggest that AMT-130 can significantly slow disease progression – providing much-needed hope to individuals and families affected by this devastating disease.”
Those receiving high-dose AMT-130 appeared to achieve better results compared to those on low-dose AMT. As of the latest data from June 30, 2025, the gene therapy drug has been generally well-tolerated, with no new severe side effects reported since December 2022.
“We are incredibly excited about these topline results and what they may represent for individuals and families affected by Huntington’s disease,” stated Walid Abi-Saab, M.D., chief medical officer of uniQure. “These findings reinforce our conviction that AMT-130 has the potential to fundamentally transform the treatment landscape for Huntington’s disease, while also providing important evidence supporting one-time, precision-delivered gene therapies for the treatment of neurological disorders.”
Prior to this finding, treatments for Huntington’s disease only helped with the symptoms of movement and mental health problems. None actually combatted the condition itself before AMT-130.
Huntington’s disease is caused by a dominant gene that causes the disorder and is passed from parent to child. Every child has a 50% chance of inheriting the condition from a parent with Huntington’s.
Preventing the disease from being passed on can be done with family planning options, genetic testing, and in vitro fertilization to select specific embryos without the Huntington’s gene.
