For the first time, Huntington’s disease (HD) has been successfully treated using a one-time gene therapy called AMT-130, showing up to a 75% slowdown in disease progression over three years in a small clinical trial.
Huntington’s is a genetic neurodegenerative disorder caused by a mutation that makes the huntingtin protein toxic, leading to progressive loss of movement, speech, and memory, and death within about 20 years. Discovered in 1993, the HD gene has long been a target for therapy, but previous attempts failed to produce clear clinical benefits.
AMT-130, developed by uniQure, works by delivering genetic material deep into the brain that produces microRNAmolecules to block production of the mutant huntingtin protein. The procedure involves a single 12–18-hour surgery, after which mutant protein levels drop permanently.
In the UCL-led trial (17 patients), the therapy slowed disease progression by about 75%, with patients maintaining cognitive and motor functions far longer than expected and no major side effects observed.
These results are supported by extensive animal studies showing that AMT-130 safely spreads through the brain, persistently lowers huntingtin levels, and remains active for at least two years.
Next steps: uniQure plans to apply for FDA approval as early as next year, with possible availability by 2027. Although further testing is required to confirm long-term safety and efficacy, this marks a major breakthrough — potentially the first gene therapy to benefit an adult-onset neurodegenerative disease, opening the door to similar treatments for conditions like Parkinson’s disease.
Credit: Mia Rozenbaum | Understanding Animal Research