An elated team of specialists has announced that one of the cruellest and most devastating diseases – Huntington’s – appears to have been successfully treated for the first time, with treatment slowing the condition by an impressive 75% in patients, reports BBC News.
This means the decline you would normally expect in one year would take four years, giving patients “decades of good quality life”, said Professor Sarah Tabrizi, director of the University College London Huntington’s Disease Centre.
Huntington’s runs through families, relentlessly kills brain cells and resembles a combination of dementia, Parkinson’s and motor neurone disease.
The treatment is a type of gene therapy given during 12 to 18 hours of delicate brain surgery.
The first symptoms of the disease tend to appear in your 30s or 40s. It is normally fatal within two decades, opening the possibility that earlier treatment could prevent symptoms from ever emerging.
Tabrizi described the results as “spectacular”.
“We never in our wildest dreams would have expected a 75% slowing of clinical progression,” she said.
None of the patients who have been treated is being identified, but one, who was medically retired, has returned to work. Others in the trial are still walking, despite being expected to need a wheelchair.
Treatment is likely to be very expensive. However, this is a moment of real hope in a disease that hits people in their prime and devastates families, said the doctors.
Huntington’s disease is caused by an error in part of our DNA called the huntingtin gene.
If one of your parents has the disease, there’s a 50% chance you will inherit the altered gene and eventually develop it as well.
This mutation turns a normal protein needed in the brain, called the huntingtin protein, into a killer of neurons. The goal of the treatment is to reduce levels of this toxic protein permanently, in a single dose.
Drug company UniQure’s treatment, called AMT-130, uses cutting edge genetic medicine combining gene therapy and gene silencing technologies.
It starts with a safe virus that has been altered to contain a specially designed sequence of DNA, which is infused deep into the brain using real-time MRI scanning to guide a microcatheter to two brain regions – the caudate nucleus and the putamen. This takes 12 to 18 hours of neurosurgery.
The virus then acts like a microscopic postman, delivering the new piece of DNA inside brain cells, where it becomes active.
This turns the neurons into a factory for making the therapy to avert their own death.
The cells produce a small fragment of genetic material (microRNA) that is designed to intercept and disable the instructions (messenger RNA) being sent from the cells’ DNA for building mutant huntingtin, and resulting in lower levels of mutant huntingtin in the brain.
Results from the trial, involving 29 patients, have been released in a statement by uniQure, but have not yet been published in full for review by other specialists.
The data showed that three years after surgery there was an average 75% slowing of the disease based on a measure which combines cognition, motor function and the ability to manage in daily life.
The data also show the treatment is saving brain cells. Levels of neurofilaments in spinal fluid – a clear sign of brain cells dying – should have increased by a third if the disease continued to progress, but were actually lower than at the start of the trial.
“This is the result we’ve been waiting for,” said Professor Ed Wild, consultant neurologist at the National Hospital for Neurology and Neurosurgery at UCLH.
“There was every chance that we would never see a result like this, so to be living in a world where we know this is not only possible, but the actual magnitude of the effect… is breathtaking.”
Wild anticipates the therapy “should last for life” because brain cells are not replaced by the body in the same manner as blood, bone and skin are constantly renewed.
UniQure says it will apply for a licence in the United States in the first quarter of 2026 with the aim of launching the drug later that year. Conversations with authorities in Britain and Europe will start next year, but the initial focus is on the US.
Dr Walid Abi-Saab, Chief Medical Officer at uniQure, said he was excited about what the results mean for families, and that the treatment had “the potential to fundamentally transform Huntington’s disease”.
BBC article – Huntington’s disease successfully treated for first time (Open access)
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