The search for the cure
Researchers at a leading global research centre are using genetic therapy to make hugely exciting breakthroughs in the fight against one of the world’s most destructive diseases.
Early trials have been extremely encouraging, but it was a simple Christmas card that really brought home the potential impact of their research.
A devastating neurological disease
Motor neurone disease (MND) is a devastating neurodegenerative disorder that affects the ability to walk, use the arms, talk, eat and breathe. Messages from the nerves that connect the brain to the muscles gradually become fainter, causing the muscle tissue to weaken, stiffen and eventually waste away.
MND affects over 5,000 people in the UK and is probably best known as the condition that afflicted Professor Stephen Hawking for most of his adult life. Sadly, Professor Hawking is an exception – the majority of patients die just two to three years after the onset of symptoms. As yet there is no cure and no effective treatment for a condition that many doctors regard it as the worst disease in medicine.
Converting research into action
The Sheffield Institute for Translational Neuroscience (SITraN) has been at the forefront of research into neurodegenerative diseases such as MND since it was opened in 2010. That word ‘translational’ is key. Its mission is to convert scientific breakthroughs into new treatments for patients as rapidly as possible.
Now home to over 225 staff and graduate research students, including 12 professors, the £20 million centre houses state-of-the-art laboratories and equipment, including a clinical database of over 2,000 patients and a vital resource of biosamples donated by MND patients for research.
SITraN is supported by the Neuroscience Institute research flagship at the University which brings together leading experts in medicine, science and engineering to better understand the nervous system and tackle the biggest challenges in neuroscience.
As well as motor neurone disease, the team at SITraN includes specialists researching Parkinson’s disease, dementia, stroke and multiple sclerosis. By using technologies such as experimental modelling of disease, gene therapy and stem cell biology, scientists at SITraN are better able to understand the biological processes behind degenerative diseases, with the goal being to identify new therapeutic targets, reduce troublesome symptoms and ultimately find a cure.
A major breakthrough
Researchers in the MND team, led by Professor Dame Pamela Shaw, director of SITraN and of the Neuroscience Institute, have recently been part of a major international clinical trial for a drug used to treat patients with a specific type of MND caused by alterations in a gene called SOD1.
Results from the first two phases of the trial, recently published in the prestigious New England Journal of Medicine, have been extremely encouraging, with the drug shown to reduce the levels of the toxic SOD1 protein that causes MND in patients and improvements in several measures of function of the motor system. These are still early days and the results of the final Phase 3 trial are awaited, but Professor Shaw describes it as the most exciting treatment trial in which she has been involved.
The early results have been so impressive that the Federal Drug Administration (FDA) in the US recommended a recruitment of further patients for the pivotal Phase 3 trial, the final stage before a new drug application can be made.
The Christmas message
But away from the data and lab work that helped instigate this trial for MND patients, it was a simple Christmas card message that brought the impact of their work home to the team in SITraN.
One of the local participants in the trial explained that her right hand had been too weak to write her Christmas cards the previous year. After she had followed our trial treatment for several months, the strength in her hands had improved to the point where she was able to send festive greetings to friends and family once more.
As one of the world’s leading centres of excellence for the fight against neurodegenerative disorders, it is breakthroughs like this that make the endless late nights in the lab worthwhile. Because SITraN’s purpose isn’t just to bring new treatments to patients, carers and families worldwide. It’s to bring new hope for patients and families facing devastating disorders of the nervous system.