Research Directions | November 2023

MND Australia and MND Research Australia research news

We were pleased to announce $3.1M of MND Research Australia Grant Funding for 2024 to support a range of research across the MND spectrum. A highlight of this year was the strong support for researchers at earlier career stages who are our future leaders.

2nd Australian and New Zealand MND Research Symposium | Wollongong, 17-18 November 2023
With almost 200 participants it was very exciting to have the brilliant Australian and NZ MND research community come together again. Wollongong was the home of Professor Justin Yerbury, a brilliant researcher who passed away from MND earlier this year, thus it felt a very appropriate place to gather the MND research community.

The Symposium commenced with a moving Welcome to Country from Aunty Jodi Edwards who is a Yuin woman with Dharawal kinship connection. Having got to know Justin Yerbury and his family she told an incredibly moving story integrating the ravages of MND with the history of the land and called for everyone to strive for common goals and to work together, a message that truly resonated with everyone in the room. 

Building on these themes we heard how the MND Research Collective is continuing to bring the research community together and has recently introduced a mentoring scheme to support early-career MND researchers. Supporting early and mid-career researchers was a theme throughout the meeting. This shift towards supporting early career researchers is also reflected in MNDRA’s grant funding support with a desire to maintain and build the capability and capacity of Australian MND research.

The scientific sessions covered a wide breadth of themes including hearing how we can apply approaches used in Parkinson’s disease to MND and how we can use advanced brain imaging and nerve measurements to follow disease. Further talks covered measuring disease progression, animal and cell models, and genetics. A series of rapid fire talks from up-and-coming researchers ranging right across the MND research spectrum completed day one.

Day two had a stronger focus on healthcare and had a number of non-technical talks to encourage participation of the wider MND community. Professor Rick Bedlack from Duke University in the US opened the day with a fantastic overview of new clinical developments and also gave a snapshot of his fantastic work investigating alternative therapies and ALS “reversals”. 

This was followed by a Tribute to Justin Yerbury, featuring a very moving story from Justin’s wife, Dr Rachel Yerbury. Dr Darren Saunders, a former colleague and friend of Justin’s, who is also the deputy Chief Scientist for NSW, also presented giving fantastic advice around research communication and team building.

The afternoon session focussed on Treatment and Care and featured topics such as clinical trials, speech pathology, cognitive change in MND, adapting video games and secretion management.

The symposium closed with an absolutely fantastic “Big Ideas” session where researchers gave brief, non-technical overviews of their research. It was great to see such complex ground-breaking research explained simply and clearly for the wider MND community.

Recent research outcomes

Analysis of non-motor symptoms in amyotrophic lateral sclerosis
Ahmad Al Khleifat and colleagues at Kings College in London have published the outcomes of their survey to investigate non-motor symptoms in MND. They showed the key non-motor symptoms were cold limbs and appetite loss.

Evening coldness in weak limbs and shock-like pain might suggest immobility or autonomic neuropathy. Interventions may include physiotherapy and/or passive movements and nuanced strategies are needed for pain management.

Loss of appetite links to mood and extended eating time and medication shows no significant impact. Strategies should prioritize mood improvement and support in eating. It's crucial to integrate non-motor symptom management into standard ALS care. Further research is needed for tailored interventions.

What’s The Worst That Could Happen? A Toothless FDA
Holly Fernandez Lynch, a medical ethics expert from the University of Pennsylvania, published a very insightful discussion piece around the potential risks of increased regulatory flexibility and lowering the bar for drug approval. This was particularly relevant to the recent impassioned debate around the recent rejection of Brainstorm’s Nur-Own. It is critical we maintain strong standard for drug approvals or we run the risk of providing false hope and ineffective treatments to those living with MND.

“There are good reasons for the FDA to reject unproven drugs. First, doing so will help promote the generation of strong evidence to support the treatment decisions facing all patients, and second, it will minimize interference with promising drug development .... we can debate the right balance between speed and certainty, but we cannot forget that the FDA is what stands between us and a world in which patients have their pick of unproven drugs but lack both meaningful new therapies and critical information to guide their treatment decisions.” – Holly Fernandez Lynch

Environmental risk scores of persistent organic pollutants associate with higher ALS risk and shorter survival in a new Michigan case/control cohort
It has been long suspected that there are significant environmental contributors to developing MND. US investigators led by Eva Feldman have developed an environmental risk score that assesses a person's risk for developing MND, as well as for survival after diagnosis, using a blood sample.

They did this by looking at 36 different persistent organic pollutants such as pesticides in a cohort of 250 participants with and without MND using a technique call mass spectroscopy. They showed participants in the highest exposure group had twice the risk of developing MND compared to someone with the lowest exposure.

"When we can assess environmental pollutants using available blood samples, that moves us toward a future where we can assess disease risk and shape prevention strategies," Feldman said.

This is only a small study and will need repeating in other groups and in other locations. However, it does provide a potential blueprint for trying to further identify one or some of the causes of MND.

Neurofilament Light Chain Elevation and Disability Progression in Multiple Sclerosis
It is absolutely critical we find better ways of diagnosing and measuring progression of MND. One of the most promising measures we have identified is neurofilament light chain (NfL).

Although in multiple sclerosis, not MND, a study from the University of California has shown that, in MS, NfL is elevated in advance of clinical worsening and may hint to a potential window of ongoing dynamic nervous system pathology that precedes the diagnosis of significant disease.

A similar approach is currently being used for Biogen’s ATLAS trial looking at Tofersen (QALSODY) as a potential preventative therapy for SOD1 MND. They are testing whether treatment with QALSODY following an increase in Nfl can prevent or slow MND progression.

The better we can understand potential tools like Nfl, the sooner we can apply it more widely in MND. Thus it is critical we keep a broad mind and bring in ideas and work from other disease areas.