Real-Time Ultrasound-Guided Intrathecal Delivery of Nusinersen in Adult Patients With Spinal Muscular Atrophy and Complex Spinal Anatomy.

BACKGROUND

Spinal muscular atrophy ( SMA ) is a rare genetic neuromuscular disorder characterized by progressive muscle atrophy and weakness. Nusinersen, the only US Food and Drug Administration-approved antisense oligonucleotide specifically for SMA management, is administered intrathecally. However, a substantial proportion of adult patients with SMA develop severe scoliosis, posing significant technical challenges for traditional lumbar puncture procedures. Real-time ultrasound guidance offers a potential solution for intrathecal nusinersen administration in these challenging cases.

OBJECTIVES

We sought to evaluate the technical feasibility and safety profile of real-time, ultrasound-guided intrathecal delivery of nusinersen in adult patients with SMA and complex spinal anatomy, including those with scoliosis or vertebral hardware.

STUDY

DESIGN

Retrospective chart review.

SETTING

This study was conducted at a single medical center.

METHODS

The data were retrospectively collected from the medical records Of 26 adult patients with SMA who had challenging intrathecal access (scoliosis or vertebral hardware) and who underwent real-time ultrasound-guided intrathecal nusinersen administration. Real-time ultrasound-guided lumbar puncture was performed using either the paramedian sagittal oblique view translaminar approach or the coronal view transforaminal approach. Procedure time, technical success, and adverse events were noted.

RESULTS

A total of 151 real-time, ultrasound-guided lumbar punctures were performed. All procedures were technically successful and well-tolerated. The mean procedure time for the paramedian sagittal oblique view translaminar approach was 10.5 ± 1.7 minutes for moderate scoliosis and 20.7 ± 9.3 minutes for severe scoliosis. The mean procedure time for the transforaminal approach, used when the paramedian sagittal oblique view translaminar approach was not feasible, was 22.5 ± 6.1 minutes. No severe adverse events were observed.

LIMITATIONS: This was a retrospective, single-center study with a relatively small sample size. Generalizability may be limited.

CONCLUSIONS

Real-time ultrasound-guided intrathecal administration of nusinersen is feasible and appears safe in adult patients with SMA and complex spinal anatomies. Further prospective, multi-center clinical trials are warranted to validate these findings and evaluate long-term safety and efficacy in a larger patient cohort.