Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Image
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Musclesense: a Trained, Artificial Neural Network for the Anatomical Segmentation of Lower Limb Magnetic Resonance Images in Neuromuscular Diseases Baris Kanber 1,2,3 & Jasper M Morrow 3 & Uros Klickovic 3 & Stephen Wastling 3,4 & Sachit Shah 3,4 & Pietro Fratta 3 & Amy R McDowell 5 & Matt G Hall 5,6 & Chris A Clark 5 & Francesco Muntoni 5 & Mary M Reilly 3 & Michael G Hanna 3 & Daniel C Alexander 2,7 & Tarek Yousry 2,3,4 & John S Thornton 2,3,4
# Springer Science+Business Media, LLC, part of Springer Nature 2020
Neuromuscular diseases affect more than 17 million children and adults worldwide causing either premature death or lifelong disability.1 Recent scientific advances have resulted in life-changing gene therapies in conditions such as spinal muscular atrophy2,3 and Duchenne muscular dystrophy.4 There are many ongoing therapy trials: in muscular dystrophies alone, there are currently 56 interventional studies actively
recruiting.5 However, assessing the efficacy of potential therapies in clinical trials, and monitoring treatment response in routine clinical practice, requires reliable and sensitive biomarkers. One of the most responsive outcome measures longitudinally has been fat quantification with 3-point Dixon magnetic resonance imaging (MRI), which can accurately track intramuscular fat accumulation, and correlates strongly
1 Deenen, J. C.W., Horlings, C. G. C., Verschuuren, J. J. G. M., Verbeek, A. L. M., & van Engelen, B. G. M. (2015). The epidemiology of neuromuscular disorders: A comprehensive overview of the literature. Journal of Neuromuscular Diseases, 2, 73–85. 2
Finkel, R. S., Mercuri, E., Darras, B. T., Connolly, A. M., Kuntz, N. L., Kirschner, J., et al. (2017). Nusinersen versus sham control in infantileonset spinal muscular atrophy. The New England Journal of Medicine, 377, 1723–1732. 3 Mendell, J. R., al-Zaidy, S., Shell, R., Arnold, W. D., Rodino-Klapac, L. R., Prior, T. W., et al. (2017). Single-dose gene-replacement therapy for spinal muscular atrophy. The New England Journal of Medicine, 377, 1713–1722. 4 Voit, T., Topaloglu, H., Straub, V., Muntoni, F., Deconinck, N., Campion, G., et al. (2014). Safety and efficacy of drisapersen for the treatment of Duchenne muscular dystrophy (DEMAND II): An exploratory, randomised, placebo-controlled phase 2 study. Lancet Neurology, 13, 987–996. 5 ClinicalTrials.gov. Available at: https://clinicaltrials.gov/. Accessed: 7 Sept 2019.
* Baris Kanber [email protected] 1
Centre for Medical Image Computing, Department of Medical Physics and Biomedical Engineering, University College London, 90 High Holborn, London WC1V 6LJ, UK
2
National Institute for Health Research Biomedical Research Centre at UCL & UCLH, London, UK
3
UCL Queen Square Institute of Neurology, University College London, London, UK
4
The Lysholm Department of Neuroradiology, University College London Hospitals NHS Foundation Trust, London, UK
5
UCL GOSH Institute of Child Health, University College London, London, UK
6
National Physical Laboratory, Teddington,
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