A complex genetic procedure offers new hope in the fight against one of the world’s cruellest diseases. The single-dose gene therapy has been shown to dramatically slow the relentless, destructive advance of Huntington’s disease. Data from a pivotal clinical trial reveal the therapy, AMT-130, slowed the disease’s progression by an astonishing 75% over three years. The news marks a new dawn for a condition that, until now, has always been a death sentence.
Huntington’s is a genetic thief. The disease typically awakens in the prime of a person’s life. It’s an inherited neurodegenerative disorder that combines the horrors of dementia, Parkinson’s, and motor neuron disease into one brutal package. It relentlessly kills brain cells, leading to a catastrophic decline in a person’s ability to think, move, and function. For those who carry the faulty gene, the future has always been a terrifying certainty. If a parent has Huntington’s, their child has a 50/50 chance of inheriting the same fate.
This is why the new results are so important: they’re the first promising option for people suffering from this condition. The biotechnology company uniQure announced the stunning results from its Phase I/II study.
Treating Huntington’s Disease
Huntington’s is caused by a single error in our DNA, a “typo” in a gene responsible for creating a protein called huntingtin. This mutation turns the normally helpful huntingtin protein into a toxic killer that accumulates in the brain and systematically destroys neurons. The gene therapy, given during 12 to 18 hours of delicate brain surgery, acts like a shredder for these broken copies.
The treatment is far from simple. Using real-time MRI for guidance, surgeons delicately infuse the therapy deep into the brain, specifically targeting two structures ravaged by the disease: the caudate and the putamen. The therapy itself is delivered by a harmless, engineered virus (an adeno-associated virus) that has been stripped of its ability to cause disease. Instead, the virus carries a new piece of genetic code as its cargo.
Once inside the brain cells, this new code doesn’t change the patient’s original DNA. Instead, it gives the neuron a new, permanent instruction: build tiny molecules called microRNA. These microRNA molecules are precision-engineered to hunt down and destroy the mRNA photocopies from the faulty huntingtin gene. By intercepting these instructions, the cell’s factory never gets the order to build the toxic protein.
It’s a complex approach, but it works. The result is a sustained reduction in the poison that kills brain cells. Essentially, the therapy turns the patient’s own neurons into tiny, lifelong factories for their own medicine.
A Lifeline
It was a small sample size, with only 29 patients. But the results are consistently positive. The primary goal was to see a slowing of the disease as measured by the composite Unified Huntington’s Disease Rating Scale (cUHDRS). This is a comprehensive score that bundles together assessments of a patient’s cognitive function (thinking), motor skills (movement), and their ability to manage daily life. Compared to a carefully matched group of untreated patients from a natural history database, the high-dose treatment group showed a 75% slowing in the progression of their cUHDRS score.
The therapy also hit a key secondary target, Total Functional Capacity (TFC), which measures a person’s ability to work, handle finances, and live independently. Here, the treatment showed a 60% slowing of decline. Patients also showed powerful, positive trends across other measures of cognition and movement.
“This result changes everything,” said Professor Ed Wild, principal investigator of the UCL Huntington’s Disease Centre trial site at University College London. “On the basis of these results it seems likely AMT-130 will be the first licensed treatment to slow Huntington’s disease, which is truly world-changing stuff. If that happens, we need to work hard to make it available to everyone who needs it, while working no less diligently to add more effective treatments to the list.”
“Trial results come through in numbers and graphs, but behind each datapoint is an incredible patient who volunteered to undergo major neurosurgery to be treated with the first gene therapy we’ve ever tested in Huntington’s disease. That is an extraordinary act of bravery for the benefit of humanity.” Wild added that the patients seem stable in ways that were not observed before with other, untreated patients.
Plenty of Work Left
This triumph, however, is just the beginning of a long road. While the therapy was generally well-tolerated, the journey to approval and widespread access is complex. UniQure plans to submit its application to the U.S. Food and Drug Administration (FDA) in the first quarter of 2026, with a potential launch later that year. Discussions with European and UK regulators will follow.
But two major hurdles remain: complexity and cost.
The neurosurgery required is incredibly specialized and demanding, which will limit how many people can be treated initially. And then there’s the price. Gene therapies are notoriously expensive. While no price has been set, similar one-time treatments for other genetic diseases carry multi-million dollar price tags. The UK’s National Health Service, for example, pays £2.6 million ($3.5 million) for a gene therapy that treats hemophilia B. The hope is that by preventing decades of decline and the need for 24/7 care, the one-time cost will prove worthwhile in the long run. Also, there is hope that further progress could make the procedure more approacheable, which would also reduce costs.
Even with such challenges, this moment represents a seismic shift. For decades, the Huntington’s community has fought for a cure that seemed elusive. Today, that fight has yielded its first true victory. The researchers are already looking ahead, planning a prevention trial for young people who carry the gene but have not yet developed symptoms. The ultimate goal is no longer just to slow Huntington’s, but to stop it before it ever starts.
It’s estimated that 5-10 out of 100,000 people of European descent have the disease. Overall, the likely number of people who carry the mutation lies in the hundreds of thousands.
