Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort
Özet
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 4 years. Methods: 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 Motor Milestone 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.
Anahtar kelimeler
Atıf için künye
Gülşen, M., Dursun, O. B., TEKİN, A., Yüksel, D., DEMİR, E., ÖZTÜRK, G., SALTIK, S., Hergüler, Ö., Özçelik, A. A., Tan, H., Özgör, B., Ekici, A., Yüksel, M. F., Şahin, S., Duman, Ö., Kömür, M., Baydan, F., Kara, B., Yiş, U., … Çobanoğulları Direk, M. (2025). Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort. Frontiers in Neurology, 16. https://doi.org/10.3389/fneur.2025.1541507
BibTeX
@article{gulsen2025-223140,
author = {Gülşen, Murat and Dursun, Onur Burak and TEKİN, AHMET and Yüksel, Deniz and DEMİR, ERCAN and ÖZTÜRK, GÜLTEN and SALTIK, SEMA and Hergüler, Özlem and Özçelik, Ayşe Aysima and Tan, Hüseyin and Özgör, Bilge and Ekici, Arzu and Yüksel, Merve Feyza and Şahin, Süleyman and Duman, Özgür and Kömür, Mustafa and Baydan, Figen and Kara, Bülent and Yiş, Uluç and Kanmaz, Seda and Çarman, Kürşat Bora and Canpolat, Mehmet and Güven, Ahmet Sami and Öztuncer, Gökçen and Ünalp, Aycan and Ardıçlı, Didem and Karaduman, Aynur Ayşe and Zararsız, Gökmen and Deda, Gülhis and BEKTAŞ, ÖMER and Bektaş, Ömer and Burak Dursun, Onur and Aysima Özçelik, Ayşe and Feyza Yüksel, Merve and Pembegül Yıldız, Edibe and Pembegül Yıldız, Edibe and Bora Çarman, Kürşat and Acar Arslan, Elif and Acar Arslan, Elif and Sami Güven, Ahmet and Ayşe Karaduman, Aynur and Yeniay Süt, Nurşah and Ünver, Olcay and Damla Dilek, Tuğçe and Yıldırım, Eif and İncecik, Faruk and Karadağ, Meral and Fatih Bütün, Mehmet and Gönüllü Polat, Burçin and Güzin, Yiğithan and Akif Kılıç, Mehmet and Deniz, Adnan and Sarıkaya Uzan, Gamze and Yılmaz Keskin, Sanem and M. Özdemir, Fatih and Yarar, Coşkun and Yıldız, Nihal and Acer, Hamit and Çaksen, Hüseyin and Aydın, Seren and Karaoğlu, Pakize and Neşe Çıtak, Ayşe and Kendirli, Tanıl and Sonel Tur, Birkan and Akyüz, Gülcan and Bibinoğlu Amirov, Ceren and Gül Mert, Gülen and Aslan, Mahmut and Haspolat, Şenay and Ersoy, Özlem and Kipoğlu, Osman and Alikılıç, Defne and Tekgül, Hasan and Kaya, Ülkühan and Derda Yücel Şen, Arife and Özkan Kart, Pınar and Per, Hüseyin and Aksoy, Ayşe and Yılmaz, Ünsal and Teber, Serap and Göktaş, Özben Akıncı and Türkdoğan, Dilşad and Uluğ, Fitnat and Bilge, Serap and Coşkun, Orhan and Öztürk, Merve and Atmaca, Esra and Cansu, Ali and Gümüş, Hakan and Karadağ Saygı, Evrim and Karaca, Ömer and Güngör, Serdal and Çobanoğlu, Nazan and Sezgin, Melek and Yıldırım, Miraç and Gökdemir, Yasemin and Şengenç, Esma and Zindar, Yılmaz and Yayıcı, Özlem and Köken, Serkan and Güngör, Mesut and Kırık, Serkan and Çobanoğulları Direk, Meltem},
title = {Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort},
journal = {Frontiers in Neurology},
year = {2025},
volume = {16},
issn = {1664-2295},
doi = {10.3389/fneur.2025.1541507},
url = {https://akademik.atauni.edu.tr/yayinlar/223140-nusinersen-for-children-with-type-i-spinal-muscular-atrophy-4-years-clinical}
}