Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity.

Autor: Papaliagkas V; Department of Biomedical Sciences, School of Health Sciences, International Hellenic University, Thessaloniki, Greece., Foroglou N; 1st Department of Neurosurgery, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Toulios P; 424 General Military Hospital, Thessaloniki, Greece., Moschou M; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Gavriilaki M; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Notas K; Laboratory of Clinical Neurophysiology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Chatzikyriakou E; Laboratory of Clinical Neurophysiology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Zafeiridou G; Laboratory of Clinical Neurophysiology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Arnaoutoglou M; Laboratory of Clinical Neurophysiology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece., Kimiskidis VK; 1st Department of Neurology, AHEPA University Hospital, School of Medicine, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Jazyk: angličtina
Zdroj: Case reports in neurology [Case Rep Neurol] 2021 Oct 26; Vol. 13 (3), pp. 710-715. Date of Electronic Publication: 2021 Oct 26 (Print Publication: 2021).
DOI: 10.1159/000519831
Abstrakt: Spinal muscular atrophy (SMA) is a hereditary neuromuscular disorder, typically caused by survival motor neuron 1 (SMN1) gene deletion in chromosome 5q resulting in loss of SMN protein. SMA type 1 progresses rapidly leading to increased mortality usually before the age of 2 years. Nusinersen, the first approved disease-modifying treatment for all 5q-SMA types and ages, is an antisense oligonucleotide administered intrathecally via repeated lumbar punctures. However, adult SMA patients typically present with severe scoliosis and spinal deformity. We present a 28-year-old patient with SMA type 1 and severe spinal deformity, who received nusinersen via a subcutaneously implanted Ommaya reservoir connected with an intrathecal catheter at the thoracic level. The repetitive administrations were completed uneventfully, obviating the need for repeated laborious lumbar punctures and eliminating radiation exposure. In adult SMA patients, performing recurrent lumbar punctures can be technically challenging raising the need for an alternative route of administration. The use of Ommaya reservoirs is a viable, practical for repeated infusions, and safe option for the intrathecal delivery of nusinersen for select cases such as an adult SMA type 1 survivor with severe spinal deformity.
Competing Interests: The authors have no conflicts of interest to declare.
(Copyright © 2021 by S. Karger AG, Basel.)
Databáze: MEDLINE
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