A novel gene therapy has been found to significantly slow the progression of Huntington’s disease, offering new hope to sufferers of the incurable disorder that destroys brain cells over time.
Drugmaker uniQure reported the results of its small but “groundbreaking” Phase I/II study this week, finding that a high dose of its AMT-130 therapy slowed disease progression by 75% after 36 months.
“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,” Dr. Walid Abi-Saab, chief medical officer of uniQure, said as part of Wednesday’s announcement.
About 42,000 Americans are battling Huntington’s disease, while another 200,000 are at risk of inheriting the condition, according to the Huntington’s Disease Society of America.
The disease is caused by a mutation in the huntingtin (HTT) gene on chromosome 4. People who inherit the mutated gene have a 50% chance of developing Huntington’s.
The genetic mutation causes the huntingtin protein to become abnormally long and fold incorrectly, forming toxic clumps inside brain cells that disrupt their normal function.
Symptoms like involuntary movements, cognitive decline and mood swings usually emerge in the late 30s or 40s.
Eventually, as nerve cells in the brain continue to break down, patients will experience dementia, difficulty speaking and swallowing and immobility. Round-the-clock care is needed.
In the uniQure trial, 12 of 29 patients were followed for three years after receiving a high dose of the AMT-130 therapy. The participants’ progression was compared to a set of people with Huntington’s disease who didn’t get treatment.
To work, a harmless virus delivers instructions for adding permanent DNA to brain cells, so less huntingtin protein is made. A single dose is expected to last a lifetime.
UniQure said the therapy is “generally well-tolerated” with a “manageable safety profile” at high and low doses.
The most common side effects stemmed from administration of the treatment, “which all resolved,” the Amsterdam-based company said.
The findings — which haven’t yet been published in a peer-reviewed journal — are set to be presented at the HD Clinical Research Congress next month in Nashville.
UniQure plans to submit its data to the Food and Drug Administration for approval in the first quarter of 2026, with the hopes of launching in the US later next year.
There’s no known way to cure, stop or reverse Huntington’s disease, but some symptoms can be managed through medications, physical, speech and occupational therapy and nutritional support.
“We’ll need to wait for the full peer-reviewed results to come out, but this is promising and gives real hope to families dealing with this disease,” Siddharthan Chandran — director of the UK Dementia Research Institute, who was not involved in the new study — said in a statement about AMT-130.
“The next step is getting this drug into larger, late-stage trials.”
