Huntington’s Disease Successfully Treated with Gene Therapy in Clinical Trial
- 3 days ago
- 2 min read
By Owen Smith
Huntington’s disease, a genetic neurodegenerative disorder, has been successfully treated for the first time in a clinical trial using a one-time gene therapy. This progressive disease involves motor, psychiatric, and cognitive decline, and is eventually fatal. The Amsterdam-based gene therapy company uniQue reported that 29 subjects in the early stages of Huntington’s related cognitive decline who received the treatment saw the disease’s progression slow by 75% over three years compared to those in a control group. A reduction in the abnormal proteins linked to neurodegeneration was also observed in the spinal fluid of trial participants.
The therapy, called AMT-130, uses an adeno-associated viral vector to deliver a DNA sequence designed to silence the mutant huntingtin (mHTT) gene. The treatment is administered once, directly into targeted brain regions through a neurosurgical procedure. Once delivered, the gene sequence instructs cells to produce microRNAs, which bind to the mHTT messenger RNA and prevent the production of toxic huntingtin protein fragments. This approach does not remove the gene itself but reduces the harmful protein that drives the progressive damage characteristic of Huntington’s disease.
The Phase III trial results suggest that reducing mHTT protein can slow clinical decline. In addition to the observed 75% slower progression in treated patients, biological markers in cerebrospinal fluid confirmed lower levels of neurofilament light chain, an indicator of neuronal injury, and of mHTT protein itself. Together, these results provide early evidence that modifying the disease process is possible, as previous studies have only addressed symptoms.
Future use of AMT-130 will depend on regulatory review, long-term follow-up, and larger confirmatory studies with increased sample size and repeated trails. If approved, it would represent the first gene therapy for Huntington’s disease and could establish a new standard of care for patients with early-stage illness. The success of this trial also has broader implications, demonstrating that direct gene silencing strategies may be viable for other dominantly inherited neurodegenerative diseases. Further research will be needed to assess durability, safety in later disease stages, and whether the therapy can be combined with other approaches.
Sources
Main Story:
Preliminary Results:
https://uniqure.gcs-web.com/news-releases/news-release-details/uniqure-announces-positive-to pline-results-pivotal-phase-iii
Images
Figure 1. Control brainscan of a healthy individual (Left), compared to a patient with Huntington’s Disease (Right).
