Huntington’s gene therapy: Researchers in the UK say an experimental one-time gene therapy for Huntington’s disease has shown the strongest clinical signal yet that it can slow progression of the fatal disorder. The therapy, AMT-130 from biotech uniQure, is delivered by neurosurgery directly into the brain and is designed to switch off production of the mutant huntingtin protein that damages neurons.
Huntington’s is caused by a defect in the HTT gene, leading to toxic huntingtin that progressively impairs movement, cognition, and behaviour. Symptoms usually appear in mid-adulthood; there is currently no approved treatment that slows the disease.
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Lead investigator Ed Wild of University College London said the latest readout “changes everything,” noting that patients receiving the higher dose showed up to a 75% reduction in disease progression over three years compared with those not treated. The therapy also produced a marked drop in a neurodegeneration biomarker in cerebrospinal fluid, which typically rises as the disease advances.
The results come from a phase 1/2 trial involving 29 patients (17 high dose, 12 low dose), with about a dozen per group followed for three years. While the data have been shared with investigators, they are not yet formally published or peer-reviewed, and independent experts will want to scrutinize the small sample size, control comparisons, and durability of benefit.
AMT-130 uses a viral vector to deliver genetic instructions that silence mutant huntingtin; investigators expect a single dose could last for years, potentially a lifetime.
uniQure says additional studies are underway in the US and Europe. Wild praised participants who underwent major surgery to test a first-in-disease approach. He said several patients have remained clinically stable longer than expected, including one who returned to work after medical retirement, anecdotes that underscore the need for rigorous, peer-reviewed confirmation before the therapy can be considered for approval.
