Single-Center Experience with Intrathecal Administration of Nusinersen in Children with Spinal Muscular Atrophy Type I

Background: Nusinersen is provided to patients with spinal muscular atrophy (SMA) type 1 within an Expanded Access Program since November 2016. This antisense drug is administered intrathecally. Phase I-III clinical studies have already shown a significantly beneficial effect on motor function and the achievement of motor milestones by the treatment with Nusinersen.

Methods: In the Division of Neuropediatrics and Muscle Disorders in Freiburg, the treatment with Nusinersen was initiated in 16 children with SMA type 1. The medication is administered intrathecally on treatment days 1, 15, 30, and 60 and then every 120 days.

Results: In 16 patients aged 2 to 43 months (mean 13.25 ± 11.21 months), 43 lumbar punctures were performed since November 2016. The number of puncture trials was mean 1.84 ± 1.34 punctures between LVB ⅘ and LVB ⅔. Failed lumbar punctures occurred more often in infants < 6 months of age. If required, the position of medullary cone was identified by ultrasound to guarantee a safe puncture above LVB ⅔. For preparation, all children received a local anesthesia cream on the puncture site as well as a peripheral analgesic. Children older than 10 months were offered to watch a movie during the procedure. In patients requiring non-invasive ventilation (NIV) during night, the lumbar puncture was performed with NIV.

Conclusion: So far, lumbar punctures for intrathecal administration of Nusinersen could be performed without any severe complications. With the described regime the lumbar punctures were well tolerated in all investigated groups of age.