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Peer-reviewedCC BY 4.0Frontiers in Neurology

Functional stabilization with ataluren in ambulatory children with nonsense mutation Duchenne muscular dystrophy: a real-world ambispective cohort study

  • Hatice Yelda Yalçın1
  • Yiğithan Güzin2
  • Figen Baydan2
  • Hakan Cengiz3
  • Pelin Teke Kısa4
  • Ayşe Özbay Yıldız5
  • Hüseyin Turgut5
  • Berk Özyılmaz6
  • Bakiye Tuncay5
  • Nihal Olgaç Dündar7
7 affiliations
  1. 1Department of Pediatric Genetics, Izmir Provincial Health Directorate Izmir City Hospital
  2. 2Department of Pediatric Neurology, Tepecik Education and Research Hospital
  3. 3Deva Holding A.S. Biotecnnology R&D Center
  4. 4Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Dokuz Eylul University
  5. 5Neuromuscular Disease Center, Tepecik Education and Research Hospital
  6. 6Department of Medical Genetics, Izmir Provincial Health Directorate Izmir City Hospital
  7. 7Department of Pediatric Neurology, Izmir Provincial Health Directorate Izmir City Hospital
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Abstract

Introduction: Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder caused by mutations in the DMD gene. Real-world long-term data on ataluren in nonsense mutation DMD (nmDMD) remain limited.

Methods: This ambispective single-center cohort study included ambulatory patients with genetically confirmed nmDMD and baseline 6-min walk test (6MWT) distance ≥300 m. Patients receiving ataluren plus glucocorticoids were compared with a glucocorticoid-monotherapy group. Outcomes included patient-level change from baseline (COB; last available minus first assessment) in 6MWT and North Star Ambulatory Assessment (NSAA), responder status, loss of ambulation, an exploratory composite functional index, and cardiac and respiratory measures.

Results: Eighteen patients were included (9 per group). The ataluren-plus-glucocorticoid group showed no significant decline in 6MWT (−10.7 ± 71.7 m; p = 0.676), whereas the monotherapy group declined significantly (−81.7 ± 40.0 m; p = 0.004). The between-group difference favored combination therapy ( p = 0.034), but was attenuated after adjustment for follow-up duration ( p = 0.251). NSAA change was not significantly different between groups ( p = 0.091). The 6MWT responder rate favored combination therapy (66.7% vs. 11.1%; p = 0.050), and the exploratory composite index was higher (+0.50 vs. −0.43; p = 0.013); these secondary findings were exploratory. Loss of ambulation occurred in 55.6% of both groups. No significant between-group differences were observed in cardiac or respiratory outcomes.

Discussion/Conclusion: In this small ambispective cohort, ataluren plus glucocorticoids was associated with a smaller unadjusted decline in 6MWT distance than glucocorticoid monotherapy. This difference was attenuated after accounting for unequal follow-up duration. No statistically significant between-group difference was observed in NSAA change, and loss of ambulation occurred in the same proportion of patients in both groups. These exploratory findings require confirmation in larger prospective studies.

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Cite

BibTeXRIS
BibTeX
@article{yalcın2026functional,
  title = {{Functional stabilization with ataluren in ambulatory children with nonsense mutation Duchenne muscular dystrophy: a real-world ambispective cohort study}},
  author = {Hatice Yelda Yalçın and Yiğithan Güzin and Figen Baydan and Hakan Cengiz and Pelin Teke Kısa and Ayşe Özbay Yıldız and Hüseyin Turgut and Berk Özyılmaz and Bakiye Tuncay and Nihal Olgaç Dündar},
  journal = {Frontiers in Neurology},
  year = {2026},
  month = nov,
  doi = {10.3389/fneur.2026.1911546},
  url = {https://www.frontiersin.org/articles/10.3389/fneur.2026.1911546/full},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Functional stabilization with ataluren in ambulatory children with nonsense mutation Duchenne muscular dystrophy: a real-world ambispective cohort study
AU  - Hatice Yelda Yalçın
AU  - Yiğithan Güzin
AU  - Figen Baydan
AU  - Hakan Cengiz
AU  - Pelin Teke Kısa
AU  - Ayşe Özbay Yıldız
AU  - Hüseyin Turgut
AU  - Berk Özyılmaz
AU  - Bakiye Tuncay
AU  - Nihal Olgaç Dündar
PY  - 2026
DA  - 2026/11/04
JO  - Frontiers in Neurology
DO  - 10.3389/fneur.2026.1911546
UR  - https://www.frontiersin.org/articles/10.3389/fneur.2026.1911546/full
AB  - Introduction: Duchenne muscular dystrophy (DMD) is an X-linked progressive neuromuscular disorder caused by mutations in the DMD gene. Real-world long-term data on ataluren in nonsense mutation DMD (nmDMD) remain limited.  Methods: This ambispective single-center cohort study included ambulatory patients with genetically confirmed nmDMD and baseline 6-min walk test (6MWT) distance ≥300 m. Patients receiving ataluren plus glucocorticoids were compared with a glucocorticoid-monotherapy group. Outcomes included patient-level change from baseline (COB; last available minus first assessment) in 6MWT and North Star Ambulatory Assessment (NSAA), responder status, loss of ambulation, an exploratory composite functional index, and cardiac and respiratory measures.  Results: Eighteen patients were included (9 per group). The ataluren-plus-glucocorticoid group showed no significant decline in 6MWT (−10.7 ± 71.7 m; p = 0.676), whereas the monotherapy group declined significantly (−81.7 ± 40.0 m; p = 0.004). The between-group difference favored combination therapy ( p = 0.034), but was attenuated after adjustment for follow-up duration ( p = 0.251). NSAA change was not significantly different between groups ( p = 0.091). The 6MWT responder rate favored combination therapy (66.7% vs. 11.1%; p = 0.050), and the exploratory composite index was higher (+0.50 vs. −0.43; p = 0.013); these secondary findings were exploratory. Loss of ambulation occurred in 55.6% of both groups. No significant between-group differences were observed in cardiac or respiratory outcomes.  Discussion/Conclusion: In this small ambispective cohort, ataluren plus glucocorticoids was associated with a smaller unadjusted decline in 6MWT distance than glucocorticoid monotherapy. This difference was attenuated after accounting for unequal follow-up duration. No statistically significant between-group difference was observed in NSAA change, and loss of ambulation occurred in the same proportion of patients in both groups. These exploratory findings require confirmation in larger prospective studies.
SN  - 1664-2295
ER  -