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.
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