Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey

Komur, Mustafa; Çağlar, Ezgi; Akbeyaz, İsmail; Keçebaş, Ahmet; Yıldız, Edibe; SALTIK, SEMA; Uzan, Gamze; TEKİN ORGUN, LEMAN; Erdogan, Semra; ÖZTÜRK, GÜLTEN; Öz Tunçer, Gökçen; YAYICI KÖKEN, ÖZLEM; Sarıgeçili, Esra; Kanmaz, Seda; Ardıçlı, Didem; Özgün, Nezir; Akıncı, Gülçin; DİLBER, BERİL; ÖZGÖR, BİLGE; Çarman, KÜRŞAT; ŞENOL, HÜSEYİN; Mert, Gülen; Kayar, Çisem; Sancak, Yasemin; Polat, Burçin; Güzin, Yiğithan; YILDIRIM, Elif; Kırık, Serkan; TÜTÜNCÜ TOKER, RABİA; Özçelik, Ayşe; Cırdı, Gökce; Asadova, Sevda; Yüksel, Deniz; İpek, Rojan; Ünver, Olcay; Aksoy, Ayşe; Tsakır, Chakan; Özdogan, Orhan; Genç, Hülya; Sengenç, Esma; Dogan, Gizem; Güngör, Olcay; Güven, Ahmet; Çavuşoğlu, Dilek; Yılmaz, Sanem; Erem, Ezgi; Ünalp, Aycan; Arslan, Elif; Yücel Şen, ARİFE; TAN, Hüseyin; Amrahova, Parvana; Tabanlı, Fatma; Direk, Meltem; Gözen, Hasan; Ümit, Pınar; Eravcı, Saliha; Uçar, Habibe; BEKTAŞ, ÖMER; Per, Hüseyin; DEMİR, ERCAN; Ceylan, Ahmet; YİŞ, ULUÇ; Hergüner, Mihriban; Tekgül, Hasan; TÜRKDOĞAN, DİLŞAD; Okuyaz, Çetin

doi:10.1016/j.ejpn.2026.08.003

Effects of newborn screening and nusinersen on survival and functional outcomes in spinal muscular atrophy with two SMN2 copies: A nationwide multicentre real-world study from Turkey

Komur M., Çağlar E., Akbeyaz İ. H., Keçebaş A., Yıldız E. P., SALTIK S., ...Daha Fazla

European Journal of Paediatric Neurology, cilt.64, ss.56-64, 2026 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 64
Basım Tarihi: 2026
Doi Numarası: 10.1016/j.ejpn.2026.08.003
Dergi Adı: European Journal of Paediatric Neurology
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
Sayfa Sayıları: ss.56-64
Anahtar Kelimeler: Motor–bulbar dissociation, Newborn screening, Nusinersen, Real-world evidence, SMN2 copy number, Spinal muscular atrophy
Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

Spinal muscular atrophy (SMA) Type 1 in infants with two SMN2 copies is characterised by rapid motor neuron loss and a historically fatal course if untreated; however, nationwide real-world comparative data evaluating screening efficacy remain scarce. This nationwide retrospective, multicentre study evaluated the real-world impact of Turkey's national newborn screening (NBS) program on clinical outcomes in a high-risk population—of infants with genetically confirmed SMA and two SMN2 copies—treated with nusinersen. Patients were classified into a historical symptomatic cohort diagnosed before NBS implementation (pre-NBS, n = 162) and an NBS cohort identified through screening (n = 96); all received nusinersen. Outcomes included survival, respiratory and nutritional independence, and acquisition of WHO-defined motor milestones. Motor function was evaluated using the Children's Hospital of Philadelphia-Infant Test of Neuromuscular Disorders (CHOP-INTEND) scale. The NBS program markedly reduced the mean age at diagnosis and treatment initiation. Mortality was 6.3% in the NBS cohort compared with 30.9% in the pre-NBS group (p < 0.001). CHOP-INTEND scores at baseline were higher in the NBS cohort. Sustained motor gains were confirmed in both cohorts, though the NBS cohort maintained superior function throughout follow-up; 48.3% of NBS-identified infants achieved independent walking, compared with only 8.6% in the pre-NBS group. Preservation of bulbar and respiratory function was superior in the NBS cohort, whereas the pre-NBS group demonstrated progressive decline. NBS program fundamentally altered the clinical trajectory of SMA Type 1 in infants with two SMN2 copies in the present cohort. Pre-symptomatic treatment in the NBS cohort supports sustained motor development and preserves bulbar and respiratory functions, underscoring the importance of minimising delays between birth, diagnosis, and treatment initiation.