Catch up on Symposium…focus on causes and treatments

Following on from our previous catch-up blog on clinical management talks presented at the Symposium, here is a continuation that looks at talks focusing on treatment therapies and causes of MND.

RNA Binding & Transport

RNA is the lesser-known ‘cousin’ of DNA – it contains copies of genetic instructions sent out from the nucleus – the ‘control hub’ of every cell. This RNA is carried out of the nucleus by lots of different proteins, including the RNA-binding proteins TDP-43 and FUS, which act as ‘couriers’ dropping off their RNA at the right part of the cell and then returning to the nucleus for the next package.

These binding proteins both play an important role in motor neurone health. In motor neurones affected by MND, the TDP-43 and FUS seem unable to make their way back to the nucleus so they form clumps in other parts of the neurone. How and why this happens is not really understood and several presentations on the first day of the Symposium provided insight into what might be going wrong.  Dr Brian Dickie, Director of Research Development at the MND Association, summarises these presentations in his blog Libraries, Doormen and Harry Potter. You can also hear Brian talk about RNA proteins on the Symposium website.Read More »

Defining disease progression in MND from MRI ‘snapshots’

Although conventional brain magnetic resonance imaging (MRI) scans are often normal in people with MND, more sophisticated MRI techniques have shown changes in the structure of their brains as the disease progresses. A limitation of even the most recent MRI techniques is that they can only provide a snapshot of the brain at a single moment in the course of the illness.

Only a description of how these MRI changes evolve over time as the disease advances will tell us how the nerve cell damage due to MND is evolving, area by area, in relation to an individual’s symptoms. This could be obtained by collecting several MRI scans from the same person over time, but the nature of MND makes it challenging to get scans showing the course of disease over several years.

We are funding a three year PhD studentship that aims to use a new imaging method to define the progression of MND (our reference: 859-792). The researcher team, involving Profs Mara Cercignani and Nigel Leigh from the University of Sussex, will use MRI scans that have already been obtained from people with MND and healthy controls.Read More »

Using surface EMG to see if fasciculations can be used as a biomarker for MND

What are fasciculations?

When motor neurones in the spinal cord become damaged this makes them electrically unstable, meaning they spontaneously discharge electrical impulses that cause small groups of muscles to contract. These contractions, known as fasciculations, are a common symptom of MND. Research suggests that they might be a good marker of motor neurone health.

Tracking fasciculations with surface EMG

Prof Chris Shaw
Prof Chris Shaw

Led by researchers Prof Chris Shaw and Prof Kerry Mills, Dr James Bashford is using technology called surface EMG to collect data on the site and frequency of fasciculations in different muscles in people with MND. Fasciculations in people with MND are different to benign fasciculations, which can occur in people without the disease and are generally harmless. James and the team hope to show that fasciculations in those with MND have a unique ‘fingerprint’ which can be accurately identified and tracked.

Data collected will be compared to other information currently used to track the progression of MND. James and the team hope surface EMG might provide a more sensitive way of measuring disease progression than previously used methods. This one year feasibility study is being carried out at King’s College London at a cost of £95,000 (our reference: 932-794).Read More »

Developing ultrasound imaging as a potential non-invasive diagnostic tool for MND

When diagnosing MND, it is important to look at the activity and impact of the motor neurones themselves – is the electrical message being carried down the nerve properly, and is it reaching the end of the nerve in the muscle? Malfunctions in the electrical activity at the muscle end of the nerve cell result in the muscle twitching that many people with MND experience.

One of the tests used to diagnose MND is an electromyography or EMG test. It involves putting needles into a muscle to measure electrical activity. It can be a painful and unpleasant experience, which doctors and patients are only willing to do when necessary.

There is evidence that ultrasound imaging may be able to detect the same malfunctions in the electrical activity of muscle as EMG, by looking at the way the muscle behaves when electrical activity occurs. Ultrasound images produce the typical grey scale images, for example pictures from baby scans, and can be used to provide images of any muscles in the body.Read More »

Investigating miRNAs as a biomarker for MND

There is a critical need to find a biomarker for MND to speed up diagnosis, monitor disease progression and improve clinical trials. A biomarker is a biological change that can be detected in a person to signal that they have MND, and that can be measured over time to monitor how the disease is progressing.

Previous research has suggested micro RNAs (miRNAs) present in the blood might be a biomarker for MND. miRNAs are short forms of RNA, the cell’s copy of our genetic material DNA. They are stable in the blood, can be easily measured with a blood test, and evidence suggests that they are linked to MND progression. To put it simply, if the biomarker hunt was a music festival, miRNAs would be a headlining act that a lot of people are excited about!Read More »

Developing a blood test for MND by linking changes in the brain and spinal cord

Developing a way to rapidly diagnose and track how MND progresses over time is a ‘holy grail’ of MND research. The search for so called ‘biomarkers’ is an area that researchers funded by the MND Association are actively pursuing.

MND Association grantees Dr Andrea Malaspina and Dr Ian Pike (Blizard Institute, Queen Mary University of London) and Prof Linda Greensmith (University College London) are currently working on a project to find these biomarkers (our reference: 871-791). People with MND have been helping the researchers by regularly donating blood and spinal cord fluid samples.

QMUL-Blizad MND group
Queen Mary University of London (QMUL) Blizard Institute MND group

Read More »

Developing the Biomarkers in Oxford Project

Biomarkers in Oxford (BioMOx) is a research project with the aim of identifying a diagnostic biomarker for MND, which could be used to track the progression of this condition.

What are biomarkers?

The aim is to identify biomarkers, or ‘biological fingerprints’ for MND. This could be through testing blood and spinal fluid (CSF) samples from people with MND, or using MRI scans and other imaging techniques to look at changes in the brain.

By understanding the very earliest changes detected in these samples at the start of MND (the biomarker), it is hoped that they could be used to work towards disease prevention and to develop more targeted therapy for those already affected by MND.

For example, including a biomarker element in future clinical trials will help us learn more about the disease and identify participants most likely to benefit from the drug being tested.

Being able to track the progression of the disease could also help with effective care-planning for people with MND.Read More »

Re-evaluating clinical trial guidelines for MND

To mark International Clinical Trials Day (20 May) we reflect on the ALS Clinical Trials Guidelines workshop that took place in March. The MND Association co-sponsored this successful meeting, held at Airlie House in Virginia USA. Approximately 140 delegates from across the world attended, including 11 MND researchers and doctors from the UK.

Why was this meeting held?

The meeting was a key stage in the process to update (and improve) international guidelines for clinical trials in amyotrophic lateral sclerosis (ALS, the most common form of MND).

The first international ALS clinical trials guideline workshop took place in 1998. The guidelines were designed to improve the quality of clinical trials in ALS, and provide evidence based recommendations to those designing and carrying out all stages of clinical trials.Read More »

Neurofilaments show promise as biomarker candidates for MND

TiskSaturday afternoon saw the 25th International Symposium on ALS/MND expand from two to three sessions running in parallel. Times have changed from the early years of the meeting when sessions finished at lunchtime on the second day because there wasn’t enough stuff to talk about! Rather than flitting between three different lecture halls, I opted to immerse myself in the Biomarkers session, especially since the session was being kicked off with presentations from MND Association funded investigators. Read More »