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Related Experiment Video

Updated: Sep 21, 2025

Evaluation of Exon Inclusion Induced by Splice Switching Antisense Oligonucleotides in SMA Patient Fibroblasts
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Nusinersen for Patients With Spinal Muscular Atrophy: 1415 Doses via an Interdisciplinary Institutional Approach.

Elena Madan1, Sabrina Carrié1, Carolina Donado1

  • 1Department of Anesthesiology, Critical Care & Pain Medicine, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.

Pediatric Neurology
|May 31, 2022
PubMed
Summary

Lumbar puncture for spinal muscular atrophy (SMA) treatment can be challenging due to spinal deformity. A structured approach ensures successful nusinersen delivery, even in complex cases.

Keywords:
Antisense oligonucleotideCerebrospinal fluidLumbar punctureNusinersenSpinal muscular atrophy

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Area of Science:

  • Neurology
  • Pharmacology
  • Medical Imaging

Background:

  • Spinal deformity and prior fusion complicate lumbar puncture (LP) for nusinersen in spinal muscular atrophy (SMA) patients.
  • Technical challenges exist for administering nusinersen via LP in patients with complex spinal anatomy.

Purpose of the Study:

  • Evaluate factors associated with difficult LPs or the need for image guidance.
  • Assess the effectiveness of a triage pathway for selective image guidance and nonstandard techniques in SMA patients.

Main Methods:

  • Retrospective study of patients receiving nusinersen from 2012-2021.
  • Analysis of electronic health records, imaging, and administrative data.
  • Descriptive statistics and univariate analyses were employed.

Main Results:

  • High LP success rates (99.4% in phase 1, 99.3% in phase 2) were achieved.
  • Difficulties were linked to prior instrumentation, higher BMI, and spinal deformity severity.
  • A triage pathway improved selective image guidance use, with over 50% of LPs performed without imaging.

Conclusions:

  • A stratified approach enables successful intrathecal nusinersen delivery.
  • Efficient resource allocation is achieved for SMA patients with varying spinal anatomies.
  • Excellent safety outcomes were observed.