UK researchers say they have slowed the progression of the fatal neural condition Huntington's disease for the first time with a groundbreaking new gene therapy.
Some patients who took part in early-stage clinical trials at University College London (UCL) saw the speed at which their condition developed reduced by 75 per cent after three years, according to uniQure, a gene therapy company based in the Netherlands and the United States.
The results are yet to be peer-reviewed.
The study tested a new gene therapy, AMT-130, which is delivered through an injection directly into the brain.
Researchers said that AMT-130 works by permanently introducing new functional DNA into a patient's cells.
Lead researcher, Ed Wild of UCL's Huntington's Disease Centre, said that on the basis of the results, it seems likely AMT-130 will be the first licensed treatment to slow Huntington's disease.
"This result changes everything … truly world-changing stuff," he said.
Some 29 patients took part in the trial with the 12 who were given the highest dose experiencing the greatest slowing of the disease.
Leading international expert in Huntington's disease Julie Stout, from the school of psychological sciences at Monash University, told ABC News that, while the results of the trial are exciting, it may not be able to help people showing symptoms now.
"Maybe for their children we can hope for that, but we don't know how it will be delivered and how people will be able to afford it, how much government support there will be for it," she said.
"We can do this treatment in Australia, we have the neurosurgery expertise … that's not so much the issue but the regulatory process and the cost are going to be very significant."
Dr Bryce Vissel, director of the Centre for Neuroscience and Regenerative Medicine at St Vincent's Hospital Sydney, said in a statement that, while the data needed to be confirmed, the study shows what careful science can deliver.
"These results, if upheld, represent the first convincing signs that gene-targeted treatment might slow the disease in people," he said.
"They build on decades of failed attempts and offer a new path where none has existed.
"At the same time, caution is essential: only a small number of patients have been followed, the comparison is with an external group not a randomised placebo, and the findings come from company announcements rather than peer-reviewed data.
"Larger and longer studies will be needed to confirm whether this treatment truly changes the lives of people with Huntington's disease."
What is Huntington's disease?
There is currently no cure for Huntington's, a fatal inherited neurodegenerative disease caused by a single genetic mutation.
The condition affects the brain and central nervous system, which progressively impairs mental and physical abilities, eventually leading to the loss of critical functions such as walking, talking, eating and reasoning.
As it is an inherited condition, there are often several people in a family with Huntington's.
Huntington's Australia said symptoms commonly begin between 30 and 50 years but can be earlier or later and, while the disease can begin in childhood, that is rarely seen in Australia.
Around 2,500 people have been diagnosed with the condition in Australia, which affects movement, thinking and mood, but Professor Stout said there are probably between 7,000 and 10,000 at risk of developing the disease.
Dr Wild said the patients who took part in the trial were now stable "in a way I'm not used to seeing in Huntington's disease".
Uniqure said the positive top-line data from the pivotal phase I/II study of AMT-130 for the treatment of Huntington's disease demonstrated a statistically significant slowing of disease progression after three years.
Professor Stout said, that if the treatment is approved by regulators in Australia it could eventually help people with Huntington's have less severe symptoms.
"The kind of approach that we take in different forms of dementia is not so much looking for a cure, but if we could slow the disease down enough, people can live out their natural life span with a high quality of life," she said.
"That's like a cure from the point of view from dementia.
"The trick with Huntington's disease, because it has an early onset, we're doing a lot of slowing to get them to the point of the natural life span … it's likely they'll live with a more slowly progressing disease that has less severe symptoms.
"I think that's a huge win."
ABC/AFP
