Top

Published in:

01-02-2019 | Original Article

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

Authors: Valeria A Sansone, Emilio Albamonte, Francesca Salmin, Jacopo Casiraghi, Alice Pirola, Massimo Bettinelli, Fabrizio Rao, Luca Mancini, Nicola Tovaglieri, Fausto Fedeli, Paolo Stoia, Maurizio Heinen, Valeria Cozzi, Elena Carraro, Christian Lunetta, Alessandra Di Bari, Eugenio Mercuri, the Italian EAP working group

Published in: Neurological Sciences | Issue 2/2019

Abstract

Nusinsersen is now available in Italy for all SMA types. We describe the experience with intrathecal treatment with nusinersen in 50 patients with SMA at the NEMO Center (NEuroMuscular Omniservice Clinical Center) in Milan, a neuromuscular patient-centered clinic hosted within Niguarda Hospital, a National Public General Hospital. Our results indicate that the pathway of care described outweighs the burden due to the repeated intrathecal injections. Irrespective of age and severity, the treatment is feasible, accessible, and replicable provided that there is a multidisciplinary team having experience and training in SMA.

Kolb SJ, Coffey CS, Yankey JW, Krosschell K, Arnold WD, Rutkove SB, Swoboda KJ, Reyna SP, Sakonju A, Darras BT, Shell R, Kuntz N, Castro D, Parsons J, Connolly AM, Chiriboga CA, McDonald C, Burnette WB, Werner K, Thangarajh M, Shieh PB, Finanger E, Cudkowicz ME, McGovern MM, McNeil DE, Finkel R, Iannaccone ST, Kaye E, Kingsley A, Renusch SR, McGovern VL, Wang X, Zaworski PG, Prior TW, Burghes AHM, Bartlett A, Kissel JT, the NeuroNEXT Clinical Trial Network on behalf of the NN101 SMA Biomarker Investigators (2017) Natural history of infantile-onset spinal muscular atrophy. Ann Neurol 82:883–891CrossRef

Wadman RI, Wijngaarde CA, Stam M, Bartels B, Otto LAM, Lemmink HH, Schoenmakers MAGC, Cuppen I, van den Berg LH, van der Pol WL (2018) Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4. Eur J Neurol 25(3):512–518. https://doi.org/10.1111/ene.13534 CrossRefPubMed

Finkel RS, Sejersen T, Mercuri E, ENMC SMA Workshop Study Group (2017) 218th ENMC International Workshop: revisiting the consensus on standards of care in SMA Naarden, The Netherlands, 19-21 February 2016. Neuromuscul Disord 27(6):596–605CrossRef

Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Qian Y, Sejersen T, SMA Care Group (2018) Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 28(2):103–115CrossRef

Finkel RS, Mercuri E, Meyer OH, Simonds AK, Schroth MK, Graham RJ, Kirschner J, Iannaccone ST, Crawford TO, Woods S, Muntoni F, Wirth B, Montes J, Main M, Mazzone ES, Vitale M, Snyder B, Quijano-Roy S, Bertini E, Davis RH, Qian Y, Sejersen T, SMA Care Group (2018) Diagnosis and management of spinal muscular atrophy: part 2: pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics. Neuromuscul Disord 28(3):197–207CrossRef

Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J, Chiriboga CA, Saito K, Servais L, Tizzano E, Topaloglu H, Tulinius M, Montes J, Glanzman AM, Bishop K, Zhong ZJ, Gheuens S, Bennett CF, Schneider E, Farwell W, De Vivo DC, ENDEAR Study Group (2017) Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377(18):1723–1732CrossRef

Duque SI, Arnold WD, Odermatt P, Li X, Porensky PN, Schmelzer L, Meyer K, Kolb SJ, Schümperli D, Kaspar BK, Burghes AH (2015) A large animal model of spinal muscular atrophy and correction of phenotype. Ann Neurol 77(3):399–4147CrossRef

Stein CA, Castanotto D (2017) FDA-approved oligonucleotide therapies in 2017. Mol Ther 25(5):1069–1075. https://doi.org/10.1016/j.ymthe.2017.03.023 CrossRefPubMedPubMedCentral

Pechmann A, Langer T, Wider S, Kirschner J (2018) Single-center experience with intrathecal administration of Nusinersen in children with spinal muscular atrophy type 1. Eur J Paediatr Neurol 22(1):122–127. https://doi.org/10.1016/j.ejpn.2017.11.001 CrossRefPubMed

10.

Messina S, Pane M, Sansone V, Bruno C, Catteruccia M, Vita G, Palermo C, Albamonte E, Pedemonte M, Bertini E, Binetti L, Mercuri E, Italian EAP working Group2 (2017) Expanded access program with Nusinersen in SMA type I in Italy: strengths and pitfalls of a successful experience. Neuromuscul Disord 27(12):1084–1086. https://doi.org/10.1016/j.nmd.2017.09.006 CrossRefPubMed

11.

Sansone VA, Pane M, Messina S, Bruno C, D'Amico A, Albamonte E, Catteruccia M, Sframeli M, Pedemonte M, Vita G, Bertini E, Mercuri E, Italian ISMAc Group (2018) A 5-center experience with intrathecal administration of nusinersen in SMA1 in Italy. Letter to the Editor of the European Journal of Pediatric Neurology regarding the manuscript "single-center experience with intrathecal administration of nusinersen in children with spinal muscular atrophy type 1" written by Pechmann and colleagues. Eur J Paediatr Neurol 22:729–731. https://doi.org/10.1016/j.ejpn.2018.02.004. CrossRefPubMed

12.

Prasad V (2018) Nusinersen for spinal muscular atrophy are we paying too much for too little? JAMA Pediatr 172(2):123–125CrossRef

13.

Pechmann A, Langer T, Schorling D, Stein S, Vogt S, Schara U, Kölbel H, Schwartz O, Hahn A, Giese K, Johannsen J, Denecke J, Weiß C, Theophil M, Kirschner J (2018) Evaluation of children with SMA type 1 under treatment with nusinersen within the expanded access program in Germany. J Neuromuscul Dis 5:135–143. https://doi.org/10.3233/JND-180315. CrossRefPubMedPubMedCentral

14.

Pane M, Palermo C, Messina S, Sansone VA, Bruno C, Catteruccia M, Sframeli M, Albamonte E, Pedemonte M, D'Amico A, Brigati G, de Sanctis R, Coratti G, Lucibello S, Bertini E, Vita G, Tiziano FD, Mercuri E, Italian EAP working group (2018) Nusinersen in type 1 SMA infants, children and young adults: preliminary results on motor function. Neuromuscul Disord 28:582–585. https://doi.org/10.1016/j.nmd.2018.05.010 CrossRefPubMed

15.

La Foresta S, Faraone C, Sframeli M et al (2018) Intrathecal administration of Nusinersen in type 1 SMA: successful psychological program in a single Italian center. Neurol Sci 39:1961–1964. https://doi.org/10.1007/s10072-018-3506-z CrossRefPubMed

16.

Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Yamashita M, Rigo F, Hung G, Schneider E, Norris DA, Xia S, Bennett CF, Bishop KM (2016) Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study. Lancet 388(10063):3017–3026CrossRef

Title: Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care
Authors: Valeria A Sansone
Emilio Albamonte
Francesca Salmin
Jacopo Casiraghi
Alice Pirola
Massimo Bettinelli
Fabrizio Rao
Luca Mancini
Nicola Tovaglieri
Fausto Fedeli
Paolo Stoia
Maurizio Heinen
Valeria Cozzi
Elena Carraro
Christian Lunetta
Alessandra Di Bari
Eugenio Mercuri
the Italian EAP working group
Publication date: 01-02-2019
Publisher: Springer International Publishing
Published in: Neurological Sciences / Issue 2/2019
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-018-3622-9

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care

Abstract

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 2/2019

Replication study of GWAS risk loci in Greek multiple sclerosis patients

Hyperresponsivity in migraine: a network dysfunction or an analytic cognitive style-connected feature?

Sudden unexpected death in Parkinson’s disease: why do neuroscientists still ignore this condition?

Efficacy of safinamide on non-motor symptoms in a cohort of patients affected by idiopathic Parkinson’s disease

Clinical variability of children with anti-N-methyl-d-aspartate receptor encephalitis in southern Brazil: a cases series and review of the literature

Early and rapidly progressing respiratory failure in a patient with amyotrophic lateral sclerosis: when FVC% is misleading