New advances in MND research could help but more awareness is needed, warn neurologists amid funding issues.
Last year Scottish Borders rugby player, Doddie Weir, announced that he was backing a petition handed in to Downing Street by motor neurone disease (MND) campaigners calling for £50 million of funding for research into the disease.
Members of the United to End MND coalition met with ministers in May this year to discuss the £50m commitment, but concluded that further work with civil servants and government is urgently needed to agree how the funds will be distributed.
A separate pilot project with the medical research charity, LifeArc, totalling £4.25m, has also been under peer review since January 2022 and it was anticipated that it would become the implementation ‘vehicle’ for the £50m investment.
However, experts say that wasting precious time on numerous funding application forms could compromise advances in MND.
“The challenges when it comes to funding and conducting MND studies come from the fact that MND is a very complex disease that has multiple causes,” says Professor Kevin Talbot, director of the Oxford Motor Neuron Disease Care & Research Centre at the University of Oxford.
“Although it looks the same to neurologists in the clinic, it’s becoming increasingly clear that there are many complicated biological factors, which determine the individual’s risk of getting most generic disease and the individual’s journey through the disease.”
MND, also known as amyotrophic lateral sclerosis (ALS), occurs when specialist nerve cells in the brain and spinal cord called motor neurones stop working properly.
It is still not possible to be clear about what causes MND. Current studies tend to indicate that a number of genetic, environmental and lifestyle risk factors need to combine before most forms of MND develop.
But finding out which factors are involved and how they combine is what can help researchers discover why the disease begins and the best way to tackle it.
“Where there is a specific genetic mutation responsible for the disease, then that is the most promising area because we now have the technology to specifically antagonise or block that genetic error,” says Professor Talbot.
“There is some promise from current trials that this might have a significant effect. In the longer term, it’s likely to have its best effect if you can apply the therapy before the disease begins, which would mean identifying all the people who are at risk of the disease.
“However, when it comes to patients who don’t have a specific genetic mutation, you’ve got the problem of not really understanding why they developed MND and therefore, what targets are relevant.
“There are lots and lots of things that go wrong after the disease has started and you can model these in the laboratory,” Talbot continues.
“But while you’re doing that, you don’t know for certain that you’re modelling a part of the disease which is amenable to therapy. There are likely to be some things going on that could respond to therapy, and some things that might not respond to therapy, or might be quite late in the process.
“These are all things that we need to look at in order to understand the key pathways and the way in which these pathways are activated.”
Professor Tom Gillingwater from the University of Edinburgh’s Euan MacDonald Centre for Motor Neuron Disease Research says the real challenge is speeding up the research process and getting newly identified therapies from the lab and into the clinics.
“I think the real question is ‘How do you adequately resource and fund the movement of findings from labs like mine into clinical trials? What are the difficulties of actually undertaking good clinical trials in the MND world where we have a very diverse patient population?’
“Whether we’re looking at genetic therapies or disease agnostic therapies – designed to preserve, protect and stabilise motor neurons, regardless of what the genetic or environmental factor that triggered the disease – the challenge is to actually convert these exciting findings into meaningful therapies,” Gillingwater explains.
“Because each patient story is different, we haven’t yet seen a lot of meaningful breakthroughs available for patients.”
Funding is a huge part of this, but so is awareness.
“If you take cancer as an example, you could stop anyone in the street and they will know cancer is an important problem because they know somebody who’s had cancer and they can easily see that as a problem that we have to sort out,” Professor Talbot explains.
“Neurological diseases, including MND, sound complicated and rare, and they have funny long names. Most people until recently did not actually think these were relevant to them, but we need to work towards understanding what these diseases are and how we can all become vulnerable to them.
“Raising awareness is fundamental not just for increasing funding for research, but also for improving the political understanding of the resources that have to be devoted to this problem.”
Although MND awareness in the UK is growing, Nick Cole, head of research at the MND Association, says it is not perfect.
“There’s a great amount of competition for funding in all medical treatments. So, the more awareness the better and the more chances of people will want to help with research and funding.
“More importantly, discoveries in motor neuron disease, the death of neurons and how neurons are maintained are also applicable to other diseases like Parkinson’s and Alzheimer’s and could prove extremely beneficial.”
Looking after somebody with MND requires more than one neurologist. It requires a multidisciplinary team, including nurses, occupational therapists, physiotherapists, nutritionists and psychologists, who work towards maintaining the patients’ well-being while guiding and supporting them through the disease.
“We have a series of specialist care centres across the country which have evolved to provide integrated care for people with motor neurone disease,” says Professor Talbot.
“This has been transformational, both in providing support, but also in helping research to link into patients, but there are still some areas of the country where that kind of specialist care is not easy to access.”
While improving access to care remains a priority, the big hope is to develop a treatment or drug that could stabilise patients and perhaps cure them in the long term.
“We need to have better options for MND patients because they are acutely aware of the timelines that it takes to deliver therapies from research labs into the clinic,” Professor Gillingwater of University of Edinburgh explains.
“I would like to see more things to improve quality of life and offer additional support tools, through exoskeletons or artificial intelligence that can assist [patients] with daily activities or communication – a package of research activities across the therapy, design, development testing, and across the whole patient care and support element.”
Along with the MY Name’5 Doddie Foundation, Doddie Weir’s registered charity, Professor Gillingwater has co-led a study, which found that terazosin – a drug typically used to treat enlarged prostates and high blood pressure – could help people living with MND.
The potential of terazosin and the current work illustrates the importance of bringing together scientists and clinicians in order to identify new targets for therapy suitable for taking forward into studies in human MND patients, the Edinburgh expert adds.
The MND Association is another organisation focusing on improving access to care and driving research into MND across England, Wales and Northern Ireland.
Cole, the association’s head of research, says: “We are hugely involved in campaigning for care and research into MND. It’s important that, without an effective treatment, we really look after people who have motor neuron disease so that they could get access to the services they need.
“We are currently funding 81 different projects, looking at different aspects of MND and we are also supporting MND research as well as the people working in this field.
“That preclinical work is vital because none of the clinical trials can take place without it.”
Advancements in genetics and technology look extremely promising, says Cole.
“We have made really fantastic progress in understanding the nervous system and I think we are very close to potential therapies.”
