Development and Translation of Therapies for Spinal Muscular Atrophy - European Medical Journal

Development and Translation of Therapies for Spinal Muscular Atrophy

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Hannah K. Shorrock, *Thomas H. Gillingwater

The authors have declared no conflicts of interest.


The authors would like to thank other members of the Gillingwater laboratory for valuable input and discussions. Hannah Shorrock is supported by the Euan MacDonald Centre for Motor Neurone Disease Research. Research in the Gillingwater laboratory relevant to this review is supported by the SMA Trust, Muscular Dystrophy UK, and the AxonomiX network. The authors would like to apologise to colleagues whose work we were unable to cite due to space limitations.

EMJ Neurol. ;4[1]:64-73. DOI/10.33590/emjneurol/10312757.
Spinal muscular atrophy (SMA), motor neuron, therapy, treatment, clinical trials

Each article is made available under the terms of the Creative Commons Attribution-Non Commercial 4.0 License.


Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterised by widespread loss of lower motor neurons from the spinal cord, leading to progressive weakness and muscle atrophy. SMA is largely caused by homozygous loss of the survival motor neuron (SMN) 1 gene, resulting in reduced levels of full-length SMN protein. Although no approved treatment is currently available for SMA, several clinical trials investigating different approaches to increase SMN levels are showing promising early results. Trials investigating the use of therapies targeting muscle strength and neuroprotective pathways are also in progress, generating the possibility of delivering combination therapies utilising both SMN-dependent and SMN-independent targets. Due to an increased understanding of the cellular and molecular consequences of SMN depletion, a second wave of therapies targeted at pathways downstream of SMN are currently undergoing preclinical development. As these therapies move forward towards the clinic, new treatment options are likely to become available, raising the potential to generate an effective ‘cure’ for SMA.

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