Early Access to Medicines scheme

Last month the UK Government’s Department of Health announced an Early Access to Medicines Scheme. But, what is this new scheme? and what does it mean for people living with MND?

The drug trial processpipette

The only proven drug to slow progression in MND is riluzole. This is the only drug that has passed all the stages of drug testing – known as clinical trials – and has been shown to be beneficial for people living with MND. Clinical trials are the ‘gold standard’ and are put in place to ensure that a drug is safe and beneficial before it is given to patients.

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What’s all the ‘FUS’ about?

Prof Vladimir Buchman (Cardiff University)’s research was selected as one of the best research studies, as decided by the journal editors, published in the Journal of Biological Chemistry in 2013. He is building on this research in his Association-funded project, which began on 1 April 2014.

The background to FUS:

In 2009 an international team of scientists, including researchers funded by the Association, identified the FUS gene as a cause of approximately 4% of inherited MND cases (5-10% of total MND cases).

The FUS protein formed by this gene is usually found in the nucleus or ‘control centre of the cell’. A change in the structure and/ or function of the FUS protein leads to motor neurone damage and the development of MND. This change causes the FUS protein to ‘wander’ outside of the cell nucleus and form protein ‘clumps’ within the cell.

These protein clumps, as well as being found in 4% of inherited MND cases, are found in many cases of MND and the related disease, frontotemporal dementia. At present it is still not clear how this happens and how these clumps of FUS protein cause MND.

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Switching the light on for MND

MND Association-funded researcher, Prof Linda Greensmith, based at University College London, together with her collaborator Dr Ivo Lieberam from Kings College London, have introduced stem cell-derived motor neurones into mice. Published in the prestigious journal Science on 4 April 2014, her research has also demonstrated that muscle function can be controlled by light.

Modelling MND

MND Researchers use a range of models to further our understanding of MND. These can be animal models, such as mice and zebrafish, or cellular models, such as induced pluripotent stem (iPS) cell-derived motor neurones (as described by Association-funded researcher, Dr Ruxandra Muthiac, during the Spring Conference in Newport on Sunday 6 April).

These models enable us to find out more about the causes of MND by studying how changes in the genes (our genetic makeup) give rise to MND. Not only this, models of MND are the essential ‘first step’ in screening potential new MND drugs before they go on to human trials.

Prof Greensmith and her team of researchers used an early stage mouse model of MND. By using this model she was able to investigate if embryonic stem cell-derived motor neurones could be successfully transplanted into mice and whether muscle function could be controlled by light.

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Matrin 3 gene identified

Following on from our ’year of hope’ appeal last month an international team of researchers, including two funded by the MND Association, have identified mutations in the Matrin 3 (MATR3) gene as a cause of the rare inherited form of MND.

Medical Research Council (MRC)/ MND Association Lady Edith Wolfson Clinical Research Fellow Dr Pietro Fratta was involved in the research, which was published on 30 March 2014 in the prestigious journal Nature Neuroscience.

Inherited MND is a rare form of MND (5-10% of total MND cases) and the MATR3 gene is the latest to be identified. This rare form of MND is characterised by a family history of MND.

New gene, new gene

When a new gene is first identified this creates a great deal of ‘buzz’ amongst the MND research community, often generating more questions than answers:

  • How common is this inherited MND gene?
  • How does this gene cause MND?

This is the starting point for MATR3. Unfortunately, we just don’t know the answers to these questions at the moment. Hopefully MND researchers will now use the discovery of MATR3 to find the answers to these questions and further our understanding of this gene.

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Understanding Spinal Muscular Atrophy: could plant derived compounds hold the key?

On 3 March 2014, researchers based at the University of Edinburgh published a research paper that extends our understanding of the childhood disease – Spinal Muscular Atrophy (SMA).

Although this is not MND so-to-speak, the disease does affect the motor neurones. Plus, the results were so interesting; I couldn’t resist writing a blog post about them.

Floppy baby syndrome

SMA is a childhood disease of the motor neurones and is sometimes known as ‘floppy baby syndrome’. It affects 1 in 6,000 births making it more common than MND, which affects approximately 1 in 100,000 people.

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TDP-43: A protein that lingers on..

MND Association-funded researchers from the University of Liverpool have published results in the prestigious open access journal Proceedings of the National Academy of Science. Under the leadership of Prof Samar Hasnain, the researchers identified that some TDP-43 mutant proteins hang around in the cell longer and become more stable, possibly leading to neurodegeneration in MND.

One of the authors, Dr Gareth Wright from University of Liverpool's Molecular Biophysics group recently presented at the 24th International Symposium on ALS/MND

One of the authors, Dr Gareth Wright, University of Liverpool’s Molecular Biophysics group

The background

Although TDP-43 genetic mistakes are a rare cause of inherited MND (5-10% of total MND cases), scientists are especially interested in the TDP-43 protein because in the vast majority of cases of MND (irrespective of whether it was caused by an inherited genetic mistake), the TDP-43 protein forms pathological clumps inside motor neurons. Read the rest of this entry »

Milan 2013 symposium catch-up

The 24th International Symposium on ALS/MND was the most successful to date with over 950 scientists, clinicians and healthcare professionals gathering in Milan between 6 – 8 December 2013.

Twitter

Sam (left) and Belinda at the 'Mini Networker for Delegates'

Sam (left) and Belinda at the ‘Mini Networker for Delegates’

There was a ‘hive’ of activity on social media this year with over twenty researchers ‘tweeting’ during the event and fourteen of them reporting on our peer-to-peer blog ReCCoB. We also contributed by tweeting updates throughout the conference using the hashtag #alssymp. You can view the tweets from the symposium here (even if you don’t have a Twitter account!).

With over 100 presentations and nearly 400 posters there was a wealth of clinical and scientific research discussed during the symposium. Networking amongst researchers also stretched out over coffee and lunch breaks, with a number of new international collaborations formed by the end of the meeting.

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The cell that never grew up

With Pantomime season kicking off back home in the UK, delegates in Milan were introduced to one of the newest cellular villains in the MND story – oligodendrocytes.

Although oligodendrocytes were first identified in the 1920s and are known to be affected in multiple sclerosis, they were generally considered as ‘bit part’ players in MND rather than ‘centre stage’.

All that has started to change in the past couple of years, with researchers in the USA and Belgium independently showing that, in both SOD1 mice and human post mortem MND brain tissue, the brain was making new oligodendrocytes to replace ones that appeared to be dying off.  The problem is that the new ones being formed appear to get stuck in an immature state and therefore do not perform their role of helping motor neurons to maintain appropriate energy levels and also send electrical signals down their long nerve fibres.

So, by getting stuck in a ‘Peter Pan’ scenario of never growing up, oligodendrocytes may be at best, unable to help protect the death of motor neurons or, at worst, they may actually contribute to the degeneration. Peter Pan rather than Captain Hook as the pantomime villain is a novel twist to the script!

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Physical activity and MND – is there a link?

The results of new research investigating a link between physical activity and MND was presented by the University of Sheffield research group in the late-breaking news session on the last day of the 24th International Symposium on ALS/MND. Under the leadership of Prof Pam Shaw, along with Dr Chris McDermott, MND Association-funded researcher Dr Ceryl Harwood presented her findings.

The background of MND and physical activity

Physical activity and the link between MND has long been debated amongst researchers.

There are a number of different types of physical activity; from leisure time (for example an evening walk) to more vigorous physical activity and athleticism (marathon runners and professional sportsmen).

Dr Brian Dickie, director of research development

Dr Brian Dickie, Director of Research Development

Previous research back in 2008 found that Italians playing professional football had an increased risk of developing MND. However, this research is yet to be confirmed in other countries. Director of Research, Dr Brian Dickie said: “The Italian researchers also looked at professional cyclists and basketball players, but no association was found, so basically the jury has been out on whether athleticism is a risk factor for MND.”

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Neuroimaging – can we see more clearly?

Plenary speaker Dr Massimo Filippi put this question to delegates on the second day of the 24th International Symposium on ALS/MND.

Opening the session on neuroimaging, Dr Filippi gave an excellent review on what we currently know about this area of research, and ultimately answering whether or not we can see more clearly in MND?

Neuroimaging - now and then.

Neuroimaging – now and then.

It’s all in your head – Magnetic Resonance Imaging (MRI)

Over the past ten years there have been significant advances in the identification of neuroimaging patterns in MND. Dr Filippi focused mainly on the use of MRI neuroimaging (a technique used to visualise changes in the brain). He stated: “Through the use of MRI we have been able to detect cortical thickness of the Cerebral cortex (the outermost layer of the brain), which is significantly reduced in MND”.

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