Health
For the first time, a groundbreaking gene therapy has been shown to successfully treat Huntington’s disease, potentially paving the way for availability in the United States as early as next year.
By Grace Wade
The caudate nucleus is one of the primary targets of the gene therapy.
KATERYNA KON/SCIENCE PHOTO LIBRARY
In a remarkable advance, an experimental gene therapy has successfully slowed the progression of Huntington’s disease. While still in preliminary stages, this development could herald a significant breakthrough and might lead to innovative therapies for other neurodegenerative disorders, including Parkinson’s and Alzheimer’s.
Mechanism of Action
The gene therapy, named AMT-130, specifically targets the harmful proteins within the brain that accelerate Huntington’s disease progression. Individuals afflicted with this disorder carry a genetic mutation causing the typically harmless huntingtin protein to form toxic aggregates within brain cells, leading to their eventual death. This results in a host of debilitating symptoms such as memory loss, impaired motor skills, and speech difficulties.
Developed by the Dutch biotech firm uniQure, the therapy halts the synthesis of these abnormal proteins. This is achieved by delivering genetic instructions to brain cells using a harmless viral vector. The received genetic material prompts cells to produce a small molecule called microRNA, which acts as a blockade against the signals responsible for creating the toxic huntingtin protein—akin to a molecular stop signal.
Administration of the Treatment
AMT-130 is administered targeting two critical brain regions affected initially by Huntington’s disease: the caudate nucleus and the putamen. Given their deep location within the brain, physicians utilize real-time imaging technologies to precisely guide a slender catheter into these regions. The entire procedure ranges from 12 to 18 hours, and initial evidence suggests a single injection may be sufficient to achieve a lasting reduction of mutant huntingtin levels in the brain.
Effectiveness of the Gene Therapy
Early results from uniQure indicate that the therapy can slow the progression of Huntington’s disease by approximately 75 percent.
This conclusion comes from a clinical trial conducted by Sarah Tabrizi at University College London, which included 17 individuals with Huntington’s receiving a high dose of AMT-130. Three years after treatment, cognitive, motor, and daily function declines were compared with similar untreated individuals. Remarkably, declines typically observed within a year of disease progression manifested in the treated group over a span of four years, as reported by Tabrizi in a statement to BBC News. Additionally, treated individuals exhibited reduced levels of a protein associated with brain damage in their cerebrospinal fluid, further supporting the therapy’s efficacy.
“These findings reinforce our conviction that AMT-130 has the potential to fundamentally transform the treatment landscape for Huntington’s disease,” stated Walid Abid-Saab from uniQure.
Potential Side Effects
Although complete data on the side effects has yet to be published, uniQure indicates that the therapy appears to be safe and well tolerated thus far. The most frequently reported side effects include headaches and confusion, both of which were manageable either without treatment or with steroids to alleviate inflammation.
Anticipated Availability
In an official announcement, uniQure expressed intentions to file for FDA approval by early next year, with a potential launch date before 2027, contingent on regulatory approval.
“However, it is still early days, and extensive testing is required to determine the long-term benefits, possible side effects, and overall effectiveness of this innovative gene therapy,” cautioned Zofia Miedzybrodzka from the University of Aberdeen, UK.
Implications for Other Neurodegenerative Diseases
If AMT-130 proves successful, it might catalyze the development of similar therapies for other neurodegenerative diseases, including Parkinson’s and various dementias. According to David Rubinsztein at the University of Cambridge, researchers would simply need to modify the gene therapy’s genetic components to target the toxic proteins implicated in these conditions. “This could represent a substantial breakthrough,” he notes.
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