Doctors slow Huntington's disease by 75% for the first time thanks to gene therapy
Kyiv • UNN
In the UK, the progression of Huntington's disease, a hereditary disease that destroys brain cells, has been successfully stopped for the first time. The new gene therapy method slowed the course of the disease by 75% in 29 patients, offering hope for additional years of full life.
In the UK, the progression of Huntington's disease, a hereditary disease that destroys brain cells, has been successfully stopped for the first time. The new gene therapy method showed a 75% slowdown in the course of the disease, UNN reports with reference to BBC.
Details
Huntington's disease is a hereditary disease that gradually destroys brain cells and combines symptoms of dementia, Parkinson's disease, and motor neuron disorders.
According to Professor Sarah Tabrizi, the results of the new study surprised even the researchers: "the progression of the disease in patients was slowed down by 75%," the publication writes.
This means that the deterioration that usually occurs in a year will now stretch over four years, giving patients additional years of full life. The new treatment method is a type of gene therapy that is performed during 12-18 hours of delicate brain surgery.
The first symptoms of Huntington's disease usually appear at age 30 or 40 and typically lead to death within two decades.
We would never in our wildest dreams have expected a 75% slowdown in clinical progression.
The names of none of the patients who underwent treatment are disclosed, but one of them retired due to health reasons and returned to work. Other study participants are still walking, despite the fact that they are expected to need a wheelchair.
The treatment is likely to be very expensive. However, for people affected by Huntington's disease in the prime of their lives, it offers hope.
What causes the disease and what is the new treatment method?
Huntington's disease is caused by an error in a section of DNA - the huntingtin gene. If one parent has this disease, there is a 50% risk of inheriting the altered gene and also getting sick. The mutation turns the normal huntingtin protein, which is necessary for brain function, into a neuron "killer". The goal of the new treatment is to constantly reduce the level of this toxic protein with a single dose. The therapy combines advances in gene medicine and gene suppression technology.
First, a safe virus, modified to contain a special DNA sequence, is used. It is injected deep into the brain under real-time MRI control, guiding a microcatheter into two areas - the caudate nucleus and the putamen. The operation lasts from 12 to 18 hours.
The virus acts as a "microscopic postman", delivering a new DNA fragment inside the cells, where it is activated. Neurons begin to produce microRNA, which intercepts and blocks messenger RNA - instructions for creating mutant huntingtin. Thanks to this, the level of harmful protein in the brain decreases, and neurons are saved from death.
In a trial conducted among 29 patients, three years after the operation, an average of 75% slowdown in disease progression was recorded according to a comprehensive indicator that takes into account cognitive and motor functions, as well as the ability to live independently, the publication says.
In addition, the results demonstrate protection of brain cells. In particular, the level of neurofilaments in the cerebrospinal fluid - a marker of cell death - instead of the expected one-third increase, turned out to be lower than at the beginning of the study.
This is the result we've been waiting for
There was a high probability that we would never see such a result, so to live in a world where we know that this is not only possible, but the actual magnitude of the effect is breathtaking, it is very difficult to fully convey the emotions - he added.