Motor neurone disease

The recent death from motor neurone disease (MND) of former Scottish rugby international and British Lion Doddie Weir OBE (1970–2022) has renewed focus on this neurodegenerative condition.

Around 5000 people in the UK have MND (Mahase, 2022), and around 2% develop the disease because of a faulty gene named superoxide dismutase 1 (SOD1). Although there is no cure for MND, there may be grounds for optimism. Following a recent phase 3 trial, Miller et al (2022) reported that the administration of tofersen ‘led to greater reductions in concentrations of SOD1 in CSF and of neurofilament light chains in plasma than placebo.’ The trial missed its primary endpoint of significant clinical improvement at 28 weeks, but when it was extended to 52 weeks, ‘the researchers said there were notable changes in motor and lung function’ (Mahase, 2022). Mehta et al (2021) reported new developments in mitochondrial bioenergetic deficits in MND motor neurones that could help ‘discover novel therapeutic agents for this devastating disease.’ Further, the European TRICALS Initiative (2022) comprises 48 research centres in 16 countries, collaborating with patients' organisations and fundraisers and aiming to find a treatment for MND within five years.