Results from the UK clinical trial of diaphragm pacing in MND/ALS (known as DiPALS) were published online today in the journal Lancet Neurology.
DiPALS was the first randomised clinical trial of diaphragm pacing in MND and aimed to find out whether or not diaphragm pacing was beneficial when added to the current standard treatment of non-invasive ventilation (NIV), compared to NIV treatment alone.
The trial results unfortunately show that diaphragm pacing was not beneficial when used in addition to NIV, and was in fact harmful, with people using diaphragm pacing living on average 11 months shorter than those on NIV alone.
A new study published yesterday in the Journal of Neurology, Neurosurgery and Psychiatry (JNNP) highlights the link between increased exposure to formaldehyde and an increased risk of developing MND.
The study in the USA was conducted by Andrea Roberts and colleagues at the Department of Social and Behavioural Sciences at Harvard. They investigated whether a person’s exposure to formaldehyde in their occupation increased their risk of developing motor neurone disease (MND).
Formaldehyde is a colourless chemical that is used as a preservative in mortuaries, medical laboratories and by undertakers. Exposure occurs primarily by inhaling formaldehyde gas or vapour from the air or by absorbing liquids containing formaldehyde through the skin.
The study found that those with a ‘high intensity’ and probability of exposure to formaldehyde had nearly four times higher risk of developing MND compared to people who had no exposure to formaldehyde. All participants that fitted these criteria were funeral directors. The increased risk of developing MND in this occupation group was only found in men, with no link found for women.
The MND Association is backing a new clinical trial in MND, known as MIROCALS. This will be a joint clinical trial between France and the UK that will aim to dampen the overactive immune system by increasing the amount of interleukin-2.
It is important to stress that planning for this MND clinical trial has only just started and the next step is to lay the essential groundwork and perform some short-term pilot studies. The main trial is likely to begin recruiting participants in autumn 2016.
Reporting back from the event in Dublin, Dr Scaber summarised the TDP-43 session, including his presentation on recent developments in his own Association-funded research:
The fifth session of the ENCALS meeting focussed on a protein called TDP-43: This is the protein that accumulates in the brains of people living with MND and has been tightly linked to the development of the disease. Abnormal forms of this protein can be found in 98% of cases and this session had some very interesting basic science discoveries around this topic. Continue reading →
Under the leadership of Dr Christopher McDermott, based at the Sheffield Institute for Translational Neuroscience (SITraN), research published today on 29 May 2015 in the Lancet Neurology highlights that better weight management in MND is key to survival.
Following on from initial results presented at the 25th International Symposium on ALS/MND in December 2014, the Prospective Gastrostomy (ProGas) study in MND aimed to investigate the optimal timing for gastrostomy in MND due to the lack of evidence available.
Dr Chris McDermott (Sheffield Institute for Translational Neuroscience, University of Sheffield)
We are pleased to announce that as well as applications for our next round for PhD Studentship applications, we are also accepting applications for our brand newNon-Clinical Fellowship scheme. These fellowships are aimed at early career researchers across a range of disciplines, allowing them to take the reins of their very own research project. Continue reading →
Professor Winston Hide gave his inaugural lecture on 17 March, during Brain Awareness week, entitled ‘breaking the human genome code – opening Pandora’s box’, which you can watch in full at the end of this blog post.
Professor Hide recently joined the University of Sheffield, and MND Association/ Medical Research Council (MRC) Lady Edith Wolfson Clinical Research Fellow, Dr Johnathan Cooper-Knock has written a blog below about Professor Hide’s research and how they are working together towards a world free from MND: Continue reading →
Following on from the identification of the gene TBK1 as a contributory risk factor for MND in February, the plot thickens further with research published yesterday by Dr Jochen Weishauptand colleagues.
Published on 19 February 2015 in the Journal Science,an international team of scientists have found mutations in the gene TBK1 as a contributory risk factor in MND.
The majority of cases of MND are caused by a combination of subtle genetic, environmental and lifestyle factors. These subtle genetic factors in the majority of cases of MND (sometimes known as susceptibility genes) may increase someone’s risk of developing MND, but they do not solely cause the disease (they must be present in combination with a number of other factors in order to tip the balance for someone to develop MND). Find out more here.
Under the leadership of Dr Goldstein, based at Columbia University, the researchers have identified a new MND susceptibility gene – TBK1. The researchers used whole genome sequencing to sequence the entire DNA of over 2,874 MND samples in America – you can find out more about this technique here. By screening a large number of samples, the researchers identified mutations in the TBK1 gene as a common subtle genetic factor involved in some cases of MND in America. Continue reading →
Today’s announcement of the difference the ALS / MND ice bucket challenge has made included a number of areas of research investment. You’ll be hearing much more about these as our plans develop, but here are three examples to give you a flavour of things to come.