Spinal muscular atrophy is a genetic motor neuron disease that leads to progressive muscular atrophy and muscle weakness. In December 2016, the Food and Drug Administration, and in June 2017, the European Medicines Agency approved the antisense oligonucleotide nusinersen for treatment of spinal muscular atrophy. Nusinersen has to be repeatedly administered intrathecally. Due to the clinical features of SMA, the application of the ASO by lumbar puncture can be challenging in symptomatic patients considering the frequently observed scoliosis, previous spine fusion surgeries, joint contractures, and respiratory insufficiency. To evaluate safety and feasibility of the intrathecal treatment in adolescent and adult SMA type 2 and 3 patients, we analyzed 93 lumbar punctures, monitored number of lumbar puncture attempts, duration of the procedure, injection site, and needle length. Oxygen saturation during the intervention, medication for sedation and local anesthesia, adverse events related to lumbar punctures, and macroscopic analysis of CSF were recorded. Moreover, we analyzed the use of CT-scans for performing lumbar punctures and its associated radiation exposure. Performing lumbar puncture for the intrathecal administration of nusinersen in adolescent and adult patients with later-onset SMA is feasible and safe, even in patients with complex spinal anatomies and respiratory insufficiency. To guarantee the quality of the procedure, we recommend establishing an experienced interdisciplinary team consisting of neurologists and/or neuropediatricians, anesthesiologists, orthopedic surgeons, and/or neuroradiologists.
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The training of our physiotherapists was sponsored by Biogen and Hoffmann-La Roche.
Compliance with ethical standards
Conflicts of interest
The author(s) declared the following potential conflicts of interest with respect to the research, authorship, and/or publication of this article. CDW has received honoraria from Biogen as an advisory board member and for lectures and as a consultant from Hoffmann-La Roche. ACL has received financial research support from AB Science, Biogen Idec, Cytokinetics, GSK, Orion Pharam, Novartis, TauRx Therapeutics Ltd., and TEVA Pharmaceuticals, and has received honoraria as a consultant from Mitsubishi, Orion Pharma, Novartis, Teva and as an advisory board member from Biogen, Treeway, and Hoffmann-La Roche. ZU has received honoraria from Biogen as a consultant. BW has received honoraria from Biogen for a lecture. SW, KW, MS, RS, and TK report no disclosures relevant to the manuscript.
The study was approved by the local ethics committee and has, therefore, been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.
Patients or their relatives gave informed consent to participate in the study.
Research data policy
Demographic and clinical data on motor functions of the investigated patients are provided to the German Network for Motor Neuron Diseases (MND-NET).
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