Spinal Muscular Atrophy – Nusinersen — SCE Neurology MCQ

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ModeratePeripheral Neuropathy & NeuromuscularSpinal Muscular Atrophy – NusinersenSCE Neurology

A 14-month-old boy (discussed at a paediatric-adult transition MDT) was diagnosed with spinal muscular atrophy type 1 (Werdnig-Hoffmann disease) confirmed by homozygous SMN1 deletion. He has progressive proximal weakness and respiratory insufficiency. What disease-modifying therapy has been approved for SMA?

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Correct answer: A — Nusinersen (an antisense oligonucleotide targeting SMN2)

Nusinersen (Spinraza) is an intrathecal antisense oligonucleotide that modifies SMN2 pre-mRNA splicing to increase production of functional SMN protein. It was the first disease-modifying therapy approved for SMA (NICE HST7, 2019). Other approved therapies include risdiplam (oral SMN2 splicing modifier, NICE TA755) and onasemnogene abeparvovec (Zolgensma, gene therapy, NICE HST15). A: Riluzole is for ALS. C: Eculizumab is for complement-mediated disorders. D: Rituximab is for autoimmune conditions. E: Interferon beta is for MS.

Reference: NICE HST7 Nusinersen (2019); NICE TA755 Risdiplam (2021)