Historic breakthrough: gene therapy curbs Huntington's disease
British researchers reported, on September 24, an unprecedented milestone in the treatment of Huntington's disease: in a clinical trial of gene therapy, the progression of the disease was reduced by 75% after three years of follow-up.
Huntington's disease is a degenerative disease caused by a mutation in a single gene, leading to the progressive death of neurons, with symptoms such as movement disorders, cognitive decline and dementia. Until then, there was no treatment capable of altering the course of the disease, only therapies to alleviate symptoms.
In the approach developed, researchers used a modified virus to deliver genetic material to the brain that blocks the production of the toxic mutant protein, called huntingtin. Delivery was carried out through surgery, which can last between 12 and 20 hours, using microcatheters in two brain regions.
According to the authors, this process is carried out once.
"Now there is a treatment for one of the most terrible diseases in the world"
29 patients in the UK and USA participated in the trial, and those who received a high dose of the therapy showed the best results. In addition to the slowing of clinical progress, imaging evidence of less neuronal death was observed, such as reduced levels of neurofilaments, markers of damage to neurons.
The study coordinator, Professor Sarah Tabrizi, maintains that "we now have a treatment for one of the most terrible diseases in the world. This is absolutely great.”
Despite the promise, experts warn of practical challenges, such as the complexity and costs of the procedure, which can limit patient access. The company responsible, UniQure, plans to submit the drug for approval in the United States next year.
Such progress generates hope in a community marked by years of waiting for diagnosis and the lack of modifying treatments. The moment represents not only scientific progress, but also a step towards the possibility of longer and more functional lives for patients and their families.