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

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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.

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References

  1. 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 82:883–891

    Article  CAS  Google Scholar 

  2. 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

    Article  CAS  PubMed  Google Scholar 

  3. 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):596–605

    Article  Google Scholar 

  4. 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):103–115

    Article  Google Scholar 

  5. 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):197–207

    Article  Google Scholar 

  6. 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):1723–1732

    Article  CAS  Google Scholar 

  7. 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):399–4147

    Article  CAS  Google Scholar 

  8. 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

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  9. 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

    Article  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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.

    Article  CAS  PubMed  Google Scholar 

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

    Article  Google Scholar 

  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.

    Article  PubMed  PubMed Central  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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

    Article  PubMed  Google Scholar 

  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):3017–3026

    Article  CAS  Google Scholar 

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Acknowledgements

We thank all patients and families for their trust and compliance to the treatment and standards of care. We thank all the NEMO staff involved in the care of these patients and their families. We wish to acknowledge the contribution of Professor Costantino De Giacomo, Head of the Pediatric Department in Niguarda Hospital, for supporting the collaboration between the Pediatric Department and the NEMO Center and for providing space and facilities for the intrathecal procedures. We are particularly grateful to the Anesthesiology and Pediatric team and to the Nurses from Niguarda Hospital with whom the NEMO staff is actively collaborating in the treatment program. We also acknowledge the Pharmacy team for support during the EAP.

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Authors and Affiliations

  1. Neurorehabilitation Unit, the NEMO Clinical Center in Milan, University of Milan, Milan, Italy

    Valeria A Sansone, Emilio Albamonte, Francesca Salmin, Jacopo Casiraghi, Alice Pirola, Massimo Bettinelli, Fabrizio Rao, Elena Carraro, Christian Lunetta & Alessandra Di Bari

  2. Dept of Pediatrics, ASST Niguarda, Milan, Italy

    Luca Mancini, Nicola Tovaglieri, Fausto Fedeli, Paolo Stoia, Maurizio Heinen & Valeria Cozzi

  3. Child Neurology Department, the NEMO Clinical Center, Policlinico Universitario “A. Gemelli”, Rome, Italy

    Eugenio Mercuri

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  1. Valeria A Sansone
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  2. Emilio Albamonte
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Consortia

the Italian EAP working group

  • M Cattaneo
  • , C Conti
  • , E De Mattia
  • , E Falcier
  • , C Grandi
  • , S Lupone
  • , G Mereu
  • , E Mizzotti
  • , V Morettini
  • , E Roma
  • , B Travaglia
  • , Daniela Lauro
  • , Anita Pallara
  • , Simona Spinoglio
  • , Maria Letizia Solinas
  • , Grazia Zappa
  • , Francesca Penno
  •  & Cristina Ponzanelli

Corresponding author

Correspondence to Valeria A Sansone.

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The authors declare that they have no conflict of interest.

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Sansone, V.A., Albamonte, E., Salmin, F. et al. Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care. Neurol Sci 40, 327–332 (2019). https://doi.org/10.1007/s10072-018-3622-9

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  • DOI: https://doi.org/10.1007/s10072-018-3622-9

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