While Huntington’s disease gradually deprives patients of their capacities, no solution existed to change the course. Today, a unique injection of protective genes could mark a turning point: the AMT -130 study shows a spectacular reduction in progression. Between prudence and enthusiasm, researchers and families are already wondering when and how to make this progress accessible.
Huntington’s disease: a relentless prognosis
Huntington’s disease is a rare and hereditary genetic pathology. It gradually leads to motor, cognitive and psychiatric disorders, up to a total loss of autonomy and, after twenty years, on death. In France, around 6,000 people live with this disease, and nearly 12,000 carrying the mutant gene without further developing symptoms.
So far, no treatment has made it possible to slow down or modify the evolution of the Huntington. Existing drugs only relieve certain symptoms, leaving the sick and their loved ones the feeling of living under a real sword of Damocles.
Genet therapy capable of slowing down the disease by 75%!
AMT-130 therapy is based on a heavy but unique surgical operation: a viral vector, harmless, is injected directly into the striatum, a key region of the brain, to reduce the production of Huntingtine toxic protein.
In the clinical trial carried out on 29 patients, 12 received a high dose and were followed for three years. The researchers compared their results with an external control group from the Enroll-HD study. The observation is striking on several parameters:
- On the Cuhdrs composite scale, which assesses motor, cognitive and functional capacities, the increase in the disease is slowed by 75 % compared to the control group;
- On the TFC scale, which measures autonomy in daily life, the slowdown reaches 60 %;
- Cognitive tests also show significant improvements, such as a reduction of more than 100 % of deterioration to the Stroop test, used to assess the speed and accuracy of executive functions;
- Even biomarkers confirm the trend: the NFL level, an indicator of neural lesions, has decreased while it usually increases over time.
As for tolerance, AMT-1130 turned out to be well supported. The side effects observed are mainly linked to the operation itself and have been absorbed over time.
For Professor Sarah Tabrizi of the University College London, the main scientific advisor for this test: “I am delighted that this pivot study of AMT -130 has shown statistically significant effects on the progression of the disease at 36 months. These revolutionary data are the most convincing evidence ever obtained in this area and underline the modifying effect of the disease in the Huntington, where an urgent need persists. These results indicate that AMT-120 has the potential of significantly slowing down the progression of the disease-offering a long-awaited hope to people and families affected by this devastating pathology “.
A treatment capable of revolutionizing the lives of patients
Professor Ed Wild, main investigator of the test, does not hide his enthusiasm:
“”This result changes everything. Based on this data, it seems likely that AMT-12 will be the first authorized treatment to slow Huntington’s disease, which is truly historical. My trial patients remain stable over time in a way that I am not used to seeing in the Huntington … One of them could even return to work “.
This is undoubtedly a new step in the development of gene therapies in the face of Huntington’s disease. A success that Walid Abi-Saab, medical director of Uniqure,We are incredibly enthusiastic about these preliminary results and what they can represent for the people and families concerned. They also provide important proof in favor of the genic therapies administered only once precisely to treat neurological diseases “.
From clinical test to concrete hope: when and for whom?
For the first time, the demonstration is made thatIt is possible to slow down the evolution of the Huntington. But researchers call for caution: the study is based on a small number of patients and a comparison with external witnesses. New, larger clinical phases will be essential to confirm the solidity of these results.
There is also the question of the ideal moment to administer AMT-130. Could efficiency be reinforced if the intervention is practiced early, before neural lesions become irreversible? But should we treat people with the gene before the appearance of symptoms?
Finally, the practical difficulties remain. The surgical procedure is complex and requires advanced hospital infrastructure. The cost of such therapy could also be considerable. Despite this, Unique plans to submit a regulatory file in the United States from the first quarter of 2026, a sign that the provision for patients may no longer be a distant perspective.
For the families concerned, these data already represent a radical change. Until now, the disease has been synonymous with a tragic certainty. From now on, a new era opens: that where the Huntington could, for the first time, be slowed down.