Neuropediatrics 2025; 56(S 01): S1-S24
DOI: 10.1055/s-0045-1812120
Neuromuscular Disorders

Effectiveness of Ataluren in Patients with nmDMD: Confirmatory Evidence from the STRIDE Registry

Authors

  • C. Werner

    1   PTC Therapeutics Germany GmbH, Frankfurt am Main, Germany

  • J. Gruenert

    1   PTC Therapeutics Germany GmbH, Frankfurt am Main, Germany

  • E. Mercuri

    2   Department of Pediatric Neurology, Catholic University, Rome, Italy

  • F. Buccella

    3   Parent Project APS Italy, Rome, Italy

  • A. N. Osorio

    4   Hospital Sant Joan de Déu, Universidad de Barcelona, Unidad de Patología Neuromuscular, Barcelona, Spain

  • M. Tulinius

    5   Department of Pediatrics, Queen Silvia Children's Hospital, University of Gothenburg, Gothenburg, Sweden

  • I. Desguerre

    6   Hôpital Necker, Enfants Malades, Paris, France

  • M. B. Dutra de Resende

    7   Department of Neurology, Faculty of Medicine, University of São Paulo, São Paulo, Brazil

  • C. McDonald

    8   University of California Davis School of Medicine, Davis, California, United States

  • H. Gordish-Dressman

    9   Center for Genetic Medicine, Children's National Health System and the George Washington University, Washington, District of Columbia, United States

  • L. Morgenroth

    10   Therapeutic Research in Neuromuscular Disorders Solutions (TRiNDS), Pittsburgh, Pennsylvania, United States

  • S. Johnson

    11   PTC Therapeutics Inc., Warren, New Jersey, United States

  • A. Krolick

    11   PTC Therapeutics Inc., Warren, New Jersey, United States

  • B. Anbu

    11   PTC Therapeutics Inc., Warren, New Jersey, United States

  • E. Liu

    11   PTC Therapeutics Inc., Warren, New Jersey, United States

  • F. Muntoni

    12   University College London Great Ormond Street Institute of Child Health, London, United Kingdom
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Background/Purpose: To assess the reliability of ataluren effectiveness data in the Strategic Targeting of Registries and International Database of Excellence (STRIDE [NCT02369731]) nonsense mutation DMD (nmDMD) patients and whether mutation type is a source of bias.STRIDE is an international, observational registry evaluating the long-term effectiveness and safety of ataluren in nmDMD patients. As of 31 January 2023, STRIDE patients had a 3.5-year delay in loss of ambulation (LoA) versus a propensity-score-matched general DMD population from the CINRG Duchenne Natural History Study receiving standard of care alone.

Methods: Age at LoA was compared between (1) French DYS Registry nmDMD patients and the DYS overall DMD population; (2) CINRG nmDMD patients and CINRG patients with other DMD mutations; and (3) 3:1 propensity-score-matched STRIDE and CINRG nmDMD patients. STRIDE patients were also matched to the combined intention-to-treat populations of three ataluren randomized controlled trials (RCTs), and the 48-week decline in 6-minute walk distance (6MWD) was compared between STRIDE and RCT ataluren-treated or placebo-treated patients.

Results: Median ages at LoA were (1) 10.6 years (n = 43) for DYS nmDMD patients versus 11.1 years (n = 504) for the DYS overall population; (2) 11.1 years (n = 16) for CINRG nmDMD patients versus 12.0 years (n = 382) for CINRG patients with other DMD mutations; and (3) 13.4 years (n = 48) for STRIDE versus 11.1 years (n = 16) for CINRG nmDMD patients, indicating a 2.3-year delay in LoA. Mean (SD) 48-week decline in 6MWD was 25.5 (64.8) meters for STRIDE patients versus 25.7 (59.9) meters for RCT ataluren-treated patients and 35.9 (60.2) meters for placebo-treated RCT patients.

Conclusion: DMD mutation type did not appear to affect age at LoA. LoA was delayed in STRIDE versus CINRG nmDMD patients, and the 48-week change in 6MWD was consistent between ataluren-treated STRIDE and RCT patients. Mutation type is, therefore, not a source of bias, indicating that STRIDE effectiveness data are reliable.



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Artikel online veröffentlicht:
26. September 2025

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