Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls

Jerry R. Mendell, Navid Khan, Nanshi Sha, Helen Eliopoulos, Craig M. McDonald, Nathalie Goemans, Eugenio Mercuri, Linda P. Lowes, Lindsay N. Alfano

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Background: Duchenne muscular dystrophy (DMD) is a rare, X-linked, fatal, degenerative neuromuscular disease caused by DMD gene mutations. A relationship between exon skipping and dystrophin production in exon 51-amenable patients treated with eteplirsen (EXONDYS 51®) is established. Once-weekly eteplirsen significantly increased dystrophin, with slower decline in ambulatory function compared to baseline. Long-term treatment with eteplirsen leads to accumulation of dystrophin over time and observed functional benefits in patients with DMD. Objective: Compare long-term ambulatory function in eteplirsen-treated patients versus controls. Methods: Study 201/202 included 12 eteplirsen-treated patients assessed twice/year for ambulatory function over 4 years. Ambulatory evaluations (6-minute walk test [6MWT], loss of ambulation, and North Star Ambulatory Assessment [NSAA]) were compared with matched controls from Italian Telethon and Leuven registries. Results: At Years 3 and 4, eteplirsen-treated patients demonstrated markedly greater mean 6MWT than controls (difference in change from baseline of 132 m [95%CI (29, 235), p=0.015] at Year 3 and 159m [95%CI (66, 253), p=0.002] at Year 4). At Year 4, a significantly greater proportion of eteplirsen-treated patients were still ambulant versus controls (10/12 vs 3/11; p=0.020). At Year 3, eteplirsen-treated patients demonstrated milder NSAA decline versus controls (difference in change from baseline of 2.6, 95%CI [-6, 11]), however, the difference was not statistically significant; Year 4 control NSAA data were not available. Conclusion: In this retrospective matched control study, eteplirsen treatment resulted in attenuation of ambulatory decline over a 4-year observation period, supporting long-term benefit in patients with DMD.

Original languageEnglish (US)
Pages (from-to)469-479
Number of pages11
JournalJournal of Neuromuscular Diseases
Issue number4
StatePublished - 2021


  • 6-minute walk test
  • Duchenne
  • Duchenne muscular dystrophy
  • dystrophin
  • eteplirsen
  • EXONDYS 51
  • loss of ambulation

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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