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ORIGINAL RESEARCH article

Front. Neurol.

Sec. Pediatric Neurology

Volume 16 - 2025 | doi: 10.3389/fneur.2025.1541507

Nusinersen for children with type I spinal muscular atrophy: Four Years' Clinical Experience in Turkish Cohort

Provisionally accepted
Ömer Bektaş Ömer Bektaş 1*Murat Gülşen Murat Gülşen 2Onur Burak Dursun Onur Burak Dursun 2Ahmet Tekin Ahmet Tekin 3Deniz Yüksel Deniz Yüksel 4Ercan Demir Ercan Demir 5Gülten Öztürk Gülten Öztürk 6Sema Saltık Sema Saltık 7Özlem Hergüler Özlem Hergüler 8Ayşe Aysima Özçelik Ayşe Aysima Özçelik 9Hüseyin Tan Hüseyin Tan 10Bilge Özgör Bilge Özgör 11Arzu Ekici Arzu Ekici 12Merve Feyza Merve Feyza 13Süleyman Şahin Süleyman Şahin 13Özgür Duman Özgür Duman 14Mustafa Kömür Mustafa Kömür 15Figen Baydan Figen Baydan 16Edibe Pembegül Yıldız Edibe Pembegül Yıldız 17Bülent Kara Bülent Kara 18Uluç Yiş Uluç Yiş 19Seda Kanmaz Seda Kanmaz 20Kürşat Bora Çarman Kürşat Bora Çarman 21Elif Acar Arslan Elif Acar Arslan 22Mehmet Canpolat Mehmet Canpolat 23Ahmet Sami Güven Ahmet Sami Güven 24Gökçen Öztuncer Gökçen Öztuncer 25Aycan Ünalp Aycan Ünalp 26Didem Ardıçlı Didem Ardıçlı 27Ayşe Aynur Karaduman Ayşe Aynur Karaduman 28Gökmen Zararsız Gökmen Zararsız 23Nurşah Yeniay Süt Nurşah Yeniay Süt 13Olcay Ünver Olcay Ünver 6Damla Tuğçe Dilek Damla Tuğçe Dilek 29Eif Yıldırım Eif Yıldırım 10Faruk İncecik Faruk İncecik 8Meral Karadağ Meral Karadağ 30Mehmet Fatih Bütün Mehmet Fatih Bütün 14Burçin Gönüllü Polat Burçin Gönüllü Polat 15Yiğithan Güzin Yiğithan Güzin 16Mehmet Akif Kılıç Mehmet Akif Kılıç 17Adnan Deniz Adnan Deniz 18Gamze Sarıkaya Uzun Gamze Sarıkaya Uzun 19Sanem Yılmaz Sanem Yılmaz 20Fatih M Özdemir Fatih M Özdemir 4Coskun Yarar Coskun Yarar 31Nihal Yıldız Nihal Yıldız 23Hamit Acer Hamit Acer 23Huseyin Çaksen Huseyin Çaksen 24Seren Aydın Seren Aydın 25Pakize Karaoğlu Pakize Karaoğlu 26Ayşe Neşe Çıtak Ayşe Neşe Çıtak 27Tanıl Kendirli Tanıl Kendirli 13Birkan Sonel Tur Birkan Sonel Tur 13Gülcan Akyüz Gülcan Akyüz 6Ceren Bibinoğlu Amirov Ceren Bibinoğlu Amirov 29Gülen Gül Mert Gülen Gül Mert 8Mahmut Aslan Mahmut Aslan 32Senay Haspolat Senay Haspolat 14Özlem Ersoy Özlem Ersoy 15Osman Kipoğlu Osman Kipoğlu 17Defne Alikılıç Defne Alikılıç 18Hasan Tekgul Hasan Tekgul 20Ulkuhan Kaya Ulkuhan Kaya 4Arife Derda Yücel Sen Arife Derda Yücel Sen 31Özkan Kart Özkan Kart 33Hüseyin Per Hüseyin Per 23Ayse Aksoy Ayse Aksoy 25Ünsal Yılmaz Ünsal Yılmaz 26SERAP TEBER SERAP TEBER 13Özben Akıncı Göktaş Özben Akıncı Göktaş 13Dilşad Türkdoğan Dilşad Türkdoğan 30Fitnat Uluğ Fitnat Uluğ 29Serap Bilge Serap Bilge 34Orhan Coskun Orhan Coskun 17Merve Oztürk Merve Oztürk 35Esra Atmaca Esra Atmaca 4Ali Cansu Ali Cansu 22Hakan Gümüş Hakan Gümüş 23EVRIM KARADAG-SAYGI EVRIM KARADAG-SAYGI 30Ömer Karaca Ömer Karaca 18Serdal Gungor Serdal Gungor 32Nazan Cobanoglu Nazan Cobanoglu 13Melek Sezgin Melek Sezgin 15Miraç Yıldırım Miraç Yıldırım 13Yasemin Gökdemir Yasemin Gökdemir 30Esma Şengenç Esma Şengenç 29Yılmaz Zindar Yılmaz Zindar 29Yayıcı Ozlem Yayıcı Ozlem 13Mesut Güngör Mesut Güngör 36Serkan Kırık Serkan Kırık 37Meltem Çobanoğulları Direk Meltem Çobanoğulları Direk 38Gülhis Deda Gülhis Deda 39
  • 1 Ankara University, Ankara, Türkiye
  • 2 Ministry of Health, General Directorate of Health Services, Autism, Mental Special Needs and Rare Diseases Department, Ankara, Türkiye
  • 3 Ministry of Health, Former Head of General Directorate of Health Services, Ankara, Türkiye
  • 4 Dr Sami Ulus Child Health and Diseases Training and Research Hospital, Ankara, Ankara, Türkiye
  • 5 Gazi University, Ankara, Ankara, Türkiye
  • 6 School of Medicine, Marmara University, Maltepe, Istanbul, Türkiye
  • 7 Department of Psychiatry, Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Türkiye
  • 8 Faculty of Medicine, Cukurova University, Adana, Adana, Türkiye
  • 9 University of Gaziantep, Gaziantep, Gaziantep, Türkiye
  • 10 Faculty of Medicine, Atatürk University, Erzurum, Erzurum, Türkiye
  • 11 İnönü University, Malatya, Malatya, Türkiye
  • 12 University of Health Scienses, Bursa Yuksek Ihtisas Training & Research Hospital, Bursa, Bursa, Türkiye
  • 13 Faculty of Medicine, Ankara University, Ankara, Sakarya, Türkiye
  • 14 Faculty of Medicine, Akdeniz University, Antalya, Antalya, Türkiye
  • 15 Faculty of Medicine, Mersin University, Yenişehir, Mersin, Türkiye
  • 16 Izmir Tepecik Training and Research Hospital, Izmir, Türkiye
  • 17 Istanbul University, Istanbul, Türkiye
  • 18 Faculty of Medicine, Kocaeli University, Kocaeli, Türkiye
  • 19 Faculty of Medicine, Dokuz Eylül University, Izmir, Türkiye
  • 20 Ege University, Bornova, İzmir, Türkiye
  • 21 Eskişehir Osmangazi Üniversitesi Tıp Fakültesi Hastanesi, Eskişehir, Eskişehir, Türkiye
  • 22 Faculty of Medicine, Karadeniz Technical University, Trabzon, Istanbul, Türkiye
  • 23 Faculty of Medicine, Erciyes University, Kayseri, Türkiye
  • 24 Department of Pediatrics, Meram Faculty of Medicine, Necmettin Erbakan University, Konya, Türkiye
  • 25 Faculty of Medicine, Ondokuz Mayıs University, Samsun, Samsun, Türkiye
  • 26 University of Health Sciences Turkey, Izmir Faculty of Medicine, Dr. Behçet Uz Children's Education and Research Hospital, İzmir, İzmir, Türkiye
  • 27 Ankara Bilkent City Hospital University, Ankara, Ankara, Türkiye
  • 28 Lokman Hekim University, Ankara, Ankara, Türkiye
  • 29 Faculty of Medicine, Istanbul University Cerrahpasa, Istanbul, Türkiye
  • 30 Marmara University Faculty of Medicine, Istanbul, Türkiye
  • 31 Faculty of Medicine, Eskişehir Osmangazi University, Eskişehir, Eskişehir, Türkiye
  • 32 Faculty of Medicine, İnönü University, Malatya, Malatya, Türkiye
  • 33 Karadeniz Technical University, Trabzon, Trabzon, Türkiye
  • 34 Çukurova University Faculty of Medicine, adana, Türkiye
  • 35 Kocaeli University Faculty of Medicine, Kocaeli, Türkiye
  • 36 School of Medicine, Selcuk University, Konya, Türkiye
  • 37 Elazig Fethi Sekin City Hospital, Elazığ, Elazığ, Türkiye
  • 38 Mersin University, Mersin, Mersin, Türkiye
  • 39 Turkish Medicines and Medical Devices Agency (TMMDA), Ankara, Ankara, Türkiye

The final, formatted version of the article will be published soon.

    Background: SMA Type 1 is the most severe form of spinal muscular atrophy with early symptom onset, limited motor development, and poor prognosis. Recent genetic-based therapies, such as nusinersen, have transformed disease outcomes. We aimed to evaluate the long-term effects of nusinersen on motor, bulbar, and respiratory functions in both symptomatic and presymptomatic SMA Type 1 patients over a period of up to four years.: This prospective, non-interventional study included 310 patients with genetically confirmed spinal muscular atrophy at 24 pediatric neurology centers in Turkey. Patients treated with nusinersen were divided into five age-based cohorts at treatment initiation: Cohort A (0-3 months), Cohort B (4-6 months), Cohort C (7-12 months), Cohort D (13-24 months), and Cohort E (>24 months). Efficacy was assessed using the CHOP-INTEND and WHO MotorMilestone Scale. This study also analyzed the respiratory support needs, gastrostomy requirements, and mortality rates across cohorts.Results: Patients treated before 12 months of age showed the most significant improvements in motor milestones, with 58.7% of Cohort A achieving independent sitting. CHOP-INTEND scores increased notably in all cohorts, with the largest improvement observed in Cohort A (93.5%). Ventilator and gastrostomy requirements decreased in the early treated cohorts.Adverse events were rare, with one discontinuation due to hydrocephalus. The overall mortality rate was 21.3%, with most of the deaths occurring within the first year.Interpretation: Nusinersen treatment initiated before 12 months of age, especially before 3 months of age, yielded the most favorable motor outcomes in patients with SMA type 1. Early initiation is associated with improved motor milestones and reduced need for ventilatory support. However, no significant improvements were observed in the bulbar function or in patients requiring extensive respiratory support.

    Keywords: spinal muscular atrophy, SMA type 1, Motor function, Severe symptomatic, Nusinersen, Ventilatory, bulbar function, Presymptomatic

    Received: 07 Dec 2024; Accepted: 19 Feb 2025.

    Copyright: © 2025 Bektaş, Gülşen, Dursun, Tekin, Yüksel, Demir, Öztürk, Saltık, Hergüler, Özçelik, Tan, Özgör, Ekici, Feyza, Şahin, Duman, Kömür, Baydan, Pembegül Yıldız, Kara, Yiş, Kanmaz, Bora Çarman, Arslan, Canpolat, Güven, Öztuncer, Ünalp, Ardıçlı, Karaduman, Zararsız, Süt, Ünver, Dilek, Yıldırım, İncecik, Karadağ, Bütün, Gönüllü Polat, Güzin, Kılıç, Deniz, Uzun, Yılmaz, Özdemir, Yarar, Yıldız, Acer, Çaksen, Aydın, Karaoğlu, Çıtak, Kendirli, Tur, Akyüz, Amirov, Gül Mert, Aslan, Haspolat, Ersoy, Kipoğlu, Alikılıç, Tekgul, Kaya, Yücel Sen, Kart, Per, Aksoy, Yılmaz, TEBER, Göktaş, Türkdoğan, Uluğ, Bilge, Coskun, Oztürk, Atmaca, Cansu, Gümüş, KARADAG-SAYGI, Karaca, Gungor, Cobanoglu, Sezgin, Yıldırım, Gökdemir, Şengenç, Zindar, Ozlem, Güngör, Kırık, Direk and Deda. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Ömer Bektaş, Ankara University, Ankara, Türkiye

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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