A new type of gene therapy has successfully treated the symptoms of Huntington’s Disease in a clinical trial jointly run by uniQure and researchers at University College London, led by Professor Sarah Tabrizi at the UCL Huntington’s Disease Centre and Professor Edward Wild serving as principal investigator at the UCL/UCLH site.
The treatment uses a modified adeno-associated virus (AAV) (or lab-created virus) as a carrier to deliver a custom piece of DNA, with AMT-130 administered directly into the patient’s brain. This modified DNA is engineered to reduce or block the production of the huntingtin protein (HTT) that the faulty gene creates, working through gene silencing at the molecular level. The virus is placed into targeted areas of the brain using a micro-catheter, guided in real-time by MRI. This complex surgery takes 12 to 18 hours to complete and targets two areas of the brain where the damage from Huntington’s is the most severe, specifically the caudate nucleus and putamen. Once the modified DNA enters those neurons, the cells begin producing the therapeutic molecules, which in turn reduce the toxic proteins associated with Huntington’s disease. The gene therapy results in a 75% slowing of the disease progression over three years in the study, compared to untreated patients. Those patients who participated in the study have seen improvements in motor skills, cognitive function, and daily function testing. The therapy produced little to no side effects except for those related only to the surgery itself.
According to UniQure, they plan to submit the therapy for FDA approval in early 2026 making the treatment the first to effectively alter the course of Huntington’s Disease, a first of it’s kind.
Huntington’s disease affects about three people per 100,000 worldwide, with roughly 30,000 cases in the U.S. and Europe, and another 200,000 individuals are at risk of inheriting the gene. For Alan Lucas, a person living with Huntington’s Disease, this announcement gives people like him hope that they or their family members may not have to face the unfortunate repercussions of the disease. The disease is passed down from parent to child, with the child having a 50% chance of getting the mutation. “After learning of this study, I am excited for myself and all of my fellow HD patients out there,” Alan said in a statement about the news release on the study. “The procedure is very promising in that it can almost restore symptomatic patients back to their original health states. This is highly encouraging to me. We continue to learn new things every day. I am also encouraged that there could be a treatment for the next generation of patients who are currently not symptomatic at the time. I have family members who could be affected by this, including my own children. It feels great to know that there may be a safety net for the other folks out there who may be future HD patients. It is great to have some hope.”
This breakthrough has the potential to accelerate research and funding for other neurodegenerative diseases like Parkinson’s Disease.
Media by Chris Denny/Adobe
