Ultrasound-guided Nusinersen Administration for Spinal Muscular Atrophy Patients With Severe Scoliosis: a Retrospective Single-arm Cohort Study

Abstract BackgroundThis observational study describes our experience delivering nusinersen through lumbar puncture with real-time ultrasound guidance in spinal muscular atrophy (SMA) patients with severe scoliosis.ResultsIntrathecal nusinersen via real-time ultrasound-guided lumbar puncture was given to 3 patients who had severe thoracic and lumbar scoliosis: a 34-year-old female with type 3 SMA, a 28-year-old male with type 2 SMA, and a 14-year-old girl with type 3 SMA. Lumbar puncture was performed without sedation under ultrasound guidance using a 22G echogenic needle in the interlaminar aspect of the L4-L5 or L5-S1 interspace and a full dose of nusinersen (12 mg/5 mL) was injected after visualizing free cerebrospinal fluid (CSF) flow. Patients completed their 4 loading doses and 1 maintenance dose of nusinersen. All 15 procedures were successful and well tolerated.ConclusionsReal-time ultrasound-guided lumbar puncture is an effective and radiation-free technique to administer intrathecal nusinersen in SMA patients with severe scoliosis when done by practitioners with expertise in this procedure.