Journal article
Nusinersen for SMA: Expanded access programme
MA Farrar, HL Teoh, KA Carey, A Cairns, R Forbes, K Herbert, S Holland, KJ Jones, MP Menezes, M Morrison, K Munro, D Villano, R Webster, IR Woodcock, EM Yiu, H Sampaio, MM Ryan
Journal of Neurology Neurosurgery and Psychiatry | BMJ PUBLISHING GROUP | Published : 2018
Abstract
Background Spinal muscular atrophy (SMA) is a devastating motor neuron disorder causing progressive muscle weakness and respiratory insufficiency. We present the initial Australian experiences implementing the expanded access programme (EAP) to enable preapproval access to nusinersen, the first disease-modifying therapy, for SMA type 1. Methods An Australian multicentre, open-label EAP for nusinersen enrolled patients with infantile-onset SMA type 1 from November 2016 to September 2017. Standard-of-care medical therapy and treatment with intrathecal nusinersen were provided to all patients. Clinical and diagnostic characteristics, molecular genetics, treatment administered, and functional mo..
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Funding Acknowledgements
MAF received support from the Motor Neurone Disease Research Institute of Australia Beryl Bayley MND Postdoctoral Fellowship.