Researchers may have found the first viable treatment for Huntington’s disease, a neurological condition without effective therapies until now. A team at University College London (UCL) has shared encouraging findings regarding AMT-130, a gene therapy currently undergoing global clinical trials.
This treatment, developed by the Dutch biotechnology firm Uniqure, has reportedly been first trialed on humans specifically with Huntington’s. The National Institute of Neurological Disorders and Stroke defines Huntington’s disease as an inherited neurodegenerative disorder that leads to the gradual deterioration of nerve cells in the brain.
Typically manifesting between the ages of 30 and 50, this condition arises from mutations in the HTT gene, which prompts the production of a protein called huntingtin linked to brain injury. Patients often face a mixture of movement issues, cognitive decline, and emotional challenges, including involuntary movements and stiffness that hinder basic functions like walking and swallowing.
UCL notes that Huntington’s usually results in severe disability and often leads to death within two decades of symptom onset. The AMT-130 treatment involves a single injection of functional DNA into the brain via neurosurgery, which aims to reduce harmful huntingtin protein levels.
In a recent three-year clinical trial, 29 participants reportedly showed significant improvements, particularly those receiving higher doses of AMT-130, who exhibited a 75% reduction in disease progression compared to standard care.
The decline in disease progression was assessed using the Unified Huntington Disease Rating Scale, which evaluates various motor and cognitive functions. Additionally, researchers measured neurofilament photoprotein levels related to neuron damage in the subjects’ spinal fluid.
Those who took AMT-130 showed reduced protein levels at the trial’s end, deviating from the typical 20% to 30% increase seen over similar periods. The therapy was also described as generally “well-tolerated” with a manageable safety profile.
Professor Sarah Tabrizi from UCL emphasized the groundbreaking nature of the data, underlining the urgent need for treatments that can actually modify the disease. She expressed hope that AMT-130 could help patients maintain their daily activities and prolong their working lives.
Dr. Ed Wilde, a principal investigator at UCL and UCLH, labeled AMT-130 as possibly the first approved treatment for slowing Huntington’s, calling it “truly world-changing.” He shared that some patients displayed stability not often seen with Huntington’s, pointing out a medically retired patient who has returned to work.
Dr. Ernest Lee Murray, a board-certified neurologist not involved in the study, acknowledged the historically challenging nature of treating Huntington’s. He noted the difficulty in identifying treatment targets and crossing the blood-brain barrier, making the new findings promising.
While existing treatments primarily address symptoms like chorea, the prospect of a drug that could alter the disease’s trajectory is quite significant. Still, potential limitations exist. Dr. Lee pointed out that the study’s small sample size and early stage necessitate further confirmation in larger, blinded trials to fully understand the effectiveness and monitor any side effects.
Results from this trial are scheduled for presentation at the HD Clinical Research Conference in Nashville next month. Furthermore, Uniqure is aiming to expedite the drug’s approval by applying to the FDA early next year, reinforcing the commitment to making this novel therapy accessible to all who could benefit.
