Genetic therapy slows down 75% in the “revolutionary” clinical trial

Doctors in the United Kingdom claim to have carried out a monumental medical breakthrough. Using a form of gene therapy, they have successfully treated – for the first time – Huntington’s neurodegenerative disorder.

On Wednesday, Unique announced the results of its phase I / II test testing therapy, named code AMT-1130. The trial, conducted with the help of researchers from the University College London, revealed that the AMT-130 had slowed the increase in the symptoms of people by 75%. He also seemed to reduce the death of brain cells, a characteristic of signature of the disease. It is still early, but the results could soon announce the arrival of remarkable treatment for the currently shortening condition.

“I believe that these revolutionary data are the most convincing in the field to date and underline the potential effects modifying the disease in Huntington’s disease, where an urgent need persists,” said Sarah Tabrizi, Director of the Center for UCL Huntington and Main Scientific Advisor in a Declaration of the UCL.

A genetic curse

The disease is triggered by a mutation of the Huntingtine gene, which means that the body produces a defective version of the Huntingtin protein. This mutant protein gradually destroys brain cells, in particular those found in the fields that govern movement and cognition. The genetic mutation which provokes that of Huntington is dominant, which means that people only have to have a copy of a parent so that the disease occurs; As such, a person has a 50% chance of inheriting it if one of their parents is changing.

People generally live in their thirties and forties before the symptoms appear, like the difficulty. But the disease is gradually worsening from there, and people will eventually develop dementia and other serious health problems. Most people with Huntington only live 15 to 20 years once the disease is manifested. And although there are treatments that can help people manage their symptoms, there is no therapy that will avoid its inevitable destruction of the brain – so far, most likely.

Short-circuiting Huntington

The AMT-130 aims to short-circuit the process by which Huntington slowly kills the brain.

Using a sterilized virus to deliver DNA to a person’s brain cells, therapy asks these cells to produce some genetic material called microarn. This microarn should then hamper the capacity of cells to produce a Huntingtine protein (normal and mutant versions), in turn, hopefully, reducing it by reducing the damage caused by the disease. And as brain cells are not constantly recycled like other parts of the body, gene therapy ideally needs only a unique treatment.

The main part of the trial involved 29 patients with early Huntington who were treated with AMT-130 (some patients in the control group would later receive treatment). At 36 months old, treatment has reached its main objective, seeming to slow the symptoms of people by 75%, to be judged by a common scale used to assess the disease. Biomarkers have also suggested that the treatment has further prevented the death of the expected brain cells. In addition, the results were the most impressive in people given the highest dose, indicating a real therapeutic response (the dose-response effect).

Although none of the patients is identified, some still walk despite what should need a wheelchair at this stage, the BBC reported on Wednesday, while a person returned to work after initially retired. Although it is still too early to know with certainty, it is possible that the level of improvement observed with AMT-1130 can provide years, even decades, prolonged life and good health to patients.

Therapy also seemed to be safe and tolerable, most of the undesirable events linked to general anesthesia and the surgery necessary to provide brain therapy.

The future of AMT-130

Above all, the data of the company has not yet been examined and evaluated by external researchers, an important part of the scientific process. These results therefore remain preliminary at the moment.

But the company is certainly put on its data to resist a meticulous examination. He plans to meet the Food and Drug Administration later this year, and assuming that everything is going well, will officially submit a request for approval of therapy at the start of next year.

Even if this therapy is approved, however, there will be important questions about how it will be accessible and affordable for people who need it. Genic therapies are generally very expensive and the AMT-130 is unlikely to be an exception. But for the first time, patients with this incurable condition may have real hope.