Treatment with Nusinersen – Challenges Regarding the Indication for Children with SMA Type 1

Article type: Research Article

Authors: Pechmann, Astrid^a | Baumann, Matthias^b | Bernert, Günther^c | Flotats-Bastardas, Marina^d | Gruber-Sedlmayr, Ursula^e | von der Hagen, Maja^f | Hasselmann, Oswald^g | Hobbiebrunken, Elke^h | Horber, Veronkaⁱ | Johannsen, Jessika^j | Kellersmann, Anna^c | Köhler, Cornelia^k | von Moers, Arpad^l | Müller-Felber, Wolfgang^m | Plecko, Barbara^e | Reihle, Christofⁿ | Schlachter, Kurt^o | Schreiber, Gudrun^p | Schwartz, Oliver^q | Smitka, Martin^f | Steiner, Elisabeth^r | Stoltenburg, Corinna^s | Stüve, Burkhard^t | Theophil, Manuela^l | Weiß, Claudia^s | Wiegand, Gert^u | Wilichowski, Ekkehard^h | Winter, Benedikt^v | Wittmann, Wolfgang^w | Schara, Ulrike^x | Kirschner, Janbernd^{a; y; *}

Affiliations: [a] Department of Neuropediatrics and Muscle Disorders, Medical Center – University of Freiburg, Faculty of Medicine, University of Freiburg, Germany | [b] Department of Pediatrics I, Division of Pediatric Neurology, Medical University of Innsbruck, Innsbruck, Austria | [c] Department of Pediatrics, Neuropediatrics, Kaiser Franz Josef Krankenhaus mit Gottfried von Preyer Children Hospital, Vienna, Austria | [d] Department of Pediatric Neurology, Saarland University Medical Center, Homburg, Germany | [e] Department of Pediatrics and Adolescent Medicine, Division of General Pediatrics, Medical University of Graz, Graz, Austria | [f] Abteilung Neuropädiatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Germany | [g] Children’s Hospital of Eastern Switzerland, St Gallen, Switzerland | [h] Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology, University Medical Center Göttingen, Georg August University, Robert Koch Strasse 40, Göttingen, 37075, Germany | [i] Department of Paediatric Neurology, University Children’s Hospital, Tübingen, Germany | [j] Department of Pediatrics, Neuropediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany | [k] Department of Neuropaediatrics, University Children‘s Hospital, Ruhr-University Bochum, Bochum, Germany | [l] Department of Pediatrics and Neuropediatrics, DRK Klinikum Westend, Berlin, Germany | [m] Department of Neuropediatrics, Dr. v. Haunersche Kinderklinik, University Children’s Hospital, LMU, München, Germany | [n] Department for Pediatric Neurology, Center for Child and Adolescent Medicine Olgahospital, Psychosomatic and Pain Medicine, Child Pain Center Baden-Württemberg, Klinikum Stuttgart, Stuttgart, Germany | [o] Department of Pediatrics, State Hospital of Bregenz (LKH Bregenz), Bregenz, Austria | [p] Department of Neuropediatrics, Klinikum Kassel, Kassel, Germany | [q] Department of Neuropediatrics, University Children’s Hospital Muenster, Muenster, Germany | [r] Department of Pediatrics, Klinikum Wels-Grieskirchen, Wels, Austria | [s] Department of Neuropediatrics, Charité – Universitätsmedizin Berlin, Berlin, Germany | [t] Department of Neuropediatrics, Kliniken der Stadt Köln, Children’s Hospital, Cologne, Germany | [u] Neuropediatrics Section of the Department of Pediatrics, Asklepios Clinic Hamburg, Nord-Heidberg, Hamburg, Germany | [v] Department of Pediatrics, Ulm University, Ulm, Germany | [w] Kinderzentrum St. Martin – Social Paediatric Centre Regensburg, Regensburg, Germany | [x] Department of Neuropediatrics, Children’s Hospital 1, University of Duisburg-Essen, Essen, Germany | [y] Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany

Correspondence: [*] Correspondence to: Janbernd Kirschner, MD, Department of Neuropediatrics, University Hospital Bonn, Adenauerallee 119, D-53113 Bonn, Germany. Tel.: +49 228 287 33595; E-mail: Janbernd.kirschner@ukbonn.de.

Abstract: The natural history of patients with spinal muscular atrophy (SMA) has changed due to advances in standard care and development of targeted treatments. Nusinersen was the first drug approved for the treatment of all SMA patients. The transfer of clinical trial data into a real-life environment is challenging, especially regarding the advice of patients and families to what extent they can expect a benefit from the novel treatment. We report the results of a modified Delphi consensus process among child neurologists from Germany, Austria and Switzerland about the indication or continuation of nusinersen treatment in children with SMA type 1 based on different clinical case scenarios.

DOI: 10.3233/JND-190441

Journal: Journal of Neuromuscular Diseases, vol. 7, no. 1, pp. 41-46, 2020