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

Thomas H. Gillingwater; Simon Parson; Catherine McWilliam; Iain Horrocks; Kenneth McWilliam; Mark Hamilton; Elaine Fletcher; Nicola Williams; Sarah Smith

doi:10.1177/00369330221078994

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 journal › Letter › peer-review

3 Citations (Scopus)

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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 language	English
Pages (from-to)	46-57
Number of pages	12
Journal	Scottish Medical Journal
Volume	67
Issue number	1
Early online date	11 Feb 2022
DOIs	https://doi.org/10.1177/00369330221078994
Publication status	Published - Feb 2022

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Cite this

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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.",

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AU - Gillingwater, Thomas H.

AU - Parson, Simon

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AU - Horrocks, Iain

AU - McWilliam, Kenneth

AU - Hamilton, Mark

AU - Fletcher, Elaine

AU - Williams, Nicola

AU - Smith, Sarah

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AB - 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.

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JF - Scottish Medical Journal

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

Abstract

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