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

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 fi...

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Autores principales:	Vasileios Papaliagkas, Nikolaos Foroglou, Petros Toulios, Maria Moschou, Maria Gavriilaki, Konstantinos Notas, Evangelia Chatzikyriakou, Georgia Zafeiridou, Marianthi Arnaoutoglou, Vasilios K. Kimiskidis
Formato:	article
Lenguaje:	EN
Publicado:	Karger Publishers 2021
Materias:	adult spinal muscular atrophy nusinersen ommaya reservoir drug administration routes case report Neurology. Diseases of the nervous system RC346-429
Acceso en línea:	https://doaj.org/article/bd7d33fc23a84cec8040e955230bfb92
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spelling	oai:doaj.org-article:bd7d33fc23a84cec8040e955230bfb922021-11-25T07:47:20ZIntrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity1662-680X10.1159/000519831https://doaj.org/article/bd7d33fc23a84cec8040e955230bfb922021-10-01T00:00:00Zhttps://www.karger.com/Article/FullText/519831https://doaj.org/toc/1662-680XSpinal 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.Vasileios PapaliagkasNikolaos ForoglouPetros TouliosMaria MoschouMaria GavriilakiKonstantinos NotasEvangelia ChatzikyriakouGeorgia ZafeiridouMarianthi ArnaoutoglouVasilios K. KimiskidisKarger Publishersarticleadult spinal muscular atrophynusinersenommaya reservoirdrug administration routescase reportNeurology. Diseases of the nervous systemRC346-429ENCase Reports in Neurology, Vol 13, Iss 3, Pp 710-715 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	adult spinal muscular atrophy nusinersen ommaya reservoir drug administration routes case report Neurology. Diseases of the nervous system RC346-429
spellingShingle	adult spinal muscular atrophy nusinersen ommaya reservoir drug administration routes case report Neurology. Diseases of the nervous system RC346-429 Vasileios Papaliagkas Nikolaos Foroglou Petros Toulios Maria Moschou Maria Gavriilaki Konstantinos Notas Evangelia Chatzikyriakou Georgia Zafeiridou Marianthi Arnaoutoglou Vasilios K. Kimiskidis Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
description	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.
format	article
author	Vasileios Papaliagkas Nikolaos Foroglou Petros Toulios Maria Moschou Maria Gavriilaki Konstantinos Notas Evangelia Chatzikyriakou Georgia Zafeiridou Marianthi Arnaoutoglou Vasilios K. Kimiskidis
author_facet	Vasileios Papaliagkas Nikolaos Foroglou Petros Toulios Maria Moschou Maria Gavriilaki Konstantinos Notas Evangelia Chatzikyriakou Georgia Zafeiridou Marianthi Arnaoutoglou Vasilios K. Kimiskidis
author_sort	Vasileios Papaliagkas
title	Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
title_short	Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
title_full	Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
title_fullStr	Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
title_full_unstemmed	Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity
title_sort	intrathecal administration of nusinersen using the ommaya reservoir in an adult with 5q-related spinal muscular atrophy type 1 and severe spinal deformity
publisher	Karger Publishers
publishDate	2021
url	https://doaj.org/article/bd7d33fc23a84cec8040e955230bfb92
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Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity

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