A call to introduce newborn screening for spinal muscular atrophy (SMA) in Scotland

Thomas H. Gillingwater* (Corresponding Author), Simon Parson, Catherine McWilliam, Iain Horrocks, Kenneth McWilliam, Mark Hamilton, Elaine Fletcher, Nicola Williams, Sarah Smith

*Corresponding author for this work

Research output: Contribution to journalLetterpeer-review

2 Citations (Scopus)
3 Downloads (Pure)

Abstract

The recent development of three effective therapies for patients with spinal muscular atrophy (SMA) – Nusinersen (Spinraza), Onasemnogene abeparvovec (Zolgensma) and Risdiplam (Evrysdi) - arguably represents one of the great medical achievements of the 21st century.1 These treatments, which all work via restoring levels of the SMN protein, have revolutionised the outlook for patients with an otherwise incurable, and mostly fatal, condition. However, all three treatments come at a significant financial cost.
Original languageEnglish
Pages (from-to)46-57
Number of pages12
JournalScottish Medical Journal
Volume67
Issue number1
Early online date11 Feb 2022
DOIs
Publication statusPublished - Feb 2022

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