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Gene therapy trial for Huntington's under way


Three patients at Oxford University Hospitals NHS Foundation Trust are among the first in the world to receive a pioneering experimental treatment for the devastating and currently incurable neurological condition, Huntington's disease.

This international collaborative trial, sponsored by Roche pharmaceuticals, is the first gene therapy trial in Oxford for a neurodegenerative disease of the central nervous system.

Huntington's disease is an inherited genetic condition that typically begins in mid-life and gets progressively worse over time.

It results in difficulties with controlling movement, and dementia, and can cause significant behavioural problems. It progresses to severe disability and death over 20 years.

"Living with Huntington's disease can be very challenging for our patients and their loved ones. Children of affected individuals have a 50 percent  risk of inheriting the same disease, meaning that Huntington's has a profound effect on whole families," said Associate Professor and Consultant in Neurogenetics, Prof Andrea Nemeth, who is leading the Oxford part of the trial.

Huntington's is generally considered to be a rare disease, but there are around 400 people affected in the Oxford area.

The GENERATION HD1 trial being conducted at the John Radcliffe Hospital is investigating a compound that is attempting to limit the production and lower levels of the toxic protein that kills nerve cells and causes the disease.

One of the patients taking part in the Oxford trial is Danny Atkins, a 39-year-old father of five from Milton Keynes. He was diagnosed with HD nearly a year ago. He said: "My mother passed away with Huntington's last year. She came from a large family of 13 children, so Huntington's is very prevalent in the family.

"I started noticing with myself things taking me longer than usual, struggling a bit with organisation. So how it affects me at the moment is quite frustrating, because things I could do before are not quite so easy. After a day's work you feel quite tired, having to concentrate on doing things that normally you'd do without even thinking.

"I've been following this trial for several years. I never thought for a second I would get onto the trial, and even better, Oxford, which is now my local centre, is doing it here for the first time. Everything fell into place quite nicely," Danny explained.

So, what is he hoping to get out of the treatment?

"Everybody hopes for the condition to slow down. Even if we can get to a point where there's a treatment, so my children don't have to worry about Huntington's. I'm so happy to be taking part, and the team here have been absolutely amazing."

An experimental compound, an antisense oligonucleotide, is injected directly into the spinal fluid at the base of the spine.

"We hope that this compound will then reach the areas of the brain that are affected, and so reduce the amount of toxic protein in those cells," Prof Nemeth explained.

Patients will receive the drug every two months for two years, and will be assessed frequently, both clinically and using MRI scans and other biochemical tests. They will also wear innovative smart-trackers that monitor other aspects of their daily lives.

For Danny, taking part in the trial is a way of honouring the memory of his mother, who was the first in her family to get tested for HD, and who would travel to be with her sisters when they were in the final stages of the disease.

"It's like looking in the mirror. Normally you don't know how you're going to go. But with Huntington's you know exactly where you are going to end up.

"My mum was very brave and didn't make too much fuss. She just wanted to be around us as long as possible. So I'm trying to show my children that I'm prepared to be brave and get the test and do as much as I possibly can to help provide a treatment."

If successful, the trial could have implications not just for Huntington's disease but also genetically similar conditions such as some of the spinocerebellar ataxias.

This trial, the outcome of which is expected in three years, represents the culmination of a massive international collaborative effort to treat this disease, which gained momentum when the causative genetic mistake was identified in the early 1990s. 

Claire Jarvis, Integrated Franchise Lead for Pipeline at Roche Products Limited, said: "Huntington's Disease is a rare, genetic, neurodegenerative, and ultimately fatal disease that has a devastating impact on families across generations.

"There are no treatments currently available that either slow down or stop the progression of the disease and new approaches are desperately needed, which is why Roche is proud to be partnering with Oxford University Hospitals NHS Foundation Trust here in the UK, as part of a pivotal, global clinical trial programme.

"The programme is looking at whether an innovative new treatment, an antisense oligonucleotide, can reduce the levels of the mutant protein, huntingtin, which is found in the brain of Huntington's patients and believed to be the underlying cause of the disease. The trial in the UK is a significant landmark and we look forward to sharing results of the trial in due course."

The team at Oxford University Hospitals, led by Professor Nemeth of the Oxford Centre for Genomic Medicine, and Dr Richard Armstrong in the Department of Neurology, have been at the forefront of this collaboration, having played an instrumental role in establishing the UK and European HD Networks and now contributing to large international efforts.

At the core of the clinical trials carried out OUH is the clinical service, which is supported by community nursing teams and the Huntington's Disease Association.

"This trial is the culmination of over 15 years of collaboration between the OUH clinical departments and key local research teams at the University of Oxford and Oxford Brookes University, supported by the NIHR Clinical Research Network," Prof Nemeth said.

Among other key researchers involved in the research are Prof Chrystalina Antoniades and Prof Gwen Douaud of the University of Oxford and Prof Helen Dawes of Oxford Brookes University.

Pictured: Professor Andrea Nemeth, a Clinician Scientist and Associate Professor at the University of Oxford and a Consultant in Neurogenetics at the Trust, with patient Danny Atkins