UMMS Affiliation

Department of Pediatrics

Publication Date


Document Type



Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Musculoskeletal Diseases | Nervous System Diseases | Pediatrics | Therapeutics


Aim: Assess the totality of efficacy evidence for ataluren in patients with nonsense mutation Duchenne muscular dystrophy (nmDMD).

Materials and methods: Data from the two completed randomized controlled trials ( NCT00592553; NCT01826487) of ataluren in nmDMD were combined to examine the intent-to-treat (ITT) populations and two patient subgroups (baseline 6-min walk distance [6MWD] > /=300- < 400 or < 400 m). Meta-analyses examined 6MWD change from baseline to week 48.

Results: Statistically significant differences in 6MWD change with ataluren versus placebo were observed across all three meta-analyses. Least-squares mean difference (95% CI): ITT (n = 342), +17.2 (0.2-34.1) m, p = 0.0473; >/=300- < 400 m (n = 143), +43.9 (18.2-69.6) m, p = 0.0008; < 400 m (n = 216), +27.7 (6.4-49.0) m, p = 0.0109.

Conclusion: These meta-analyses support previous evidence for ataluren in slowing disease progression versus placebo in patients with nmDMD over 48 weeks. Treatment benefit was most evident in patients with a baseline 6MWD > /=300- < 400 m (the ambulatory transition phase), thereby informing future trial design.


6-minute walk distance, Duchenne muscular dystrophy, ataluren, efficacy, meta-analyses, nonsense mutation Duchenne muscular dystrophy, randomized controlled trials

Rights and Permissions

© 2020 Campbell C et al. This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License. To view a copy of this license, visit

DOI of Published Version



Campbell C, Barohn RJ, Bertini E, Chabrol B, Comi GP, Darras BT, Finkel RS, Flanigan KM, Goemans N, Iannaccone ST, Jones KJ, Kirschner J, Mah JK, Mathews KD, McDonald CM, Mercuri E, Nevo Y, Péréon Y, Renfroe JB, Ryan MM, Sampson JB, Schara U, Sejersen T, Selby K, Tulinius M, Vílchez JJ, Voit T, Wei LJ, Wong BL, Elfring G, Souza M, McIntosh J, Trifillis P, Peltz SW, Muntoni F; PTC124-GD-007-DMD Study Group; ACT DMD Study Group; Clinical Evaluator Training Groups. Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy. J Comp Eff Res. 2020 Oct;9(14):973-984. doi: 10.2217/cer-2020-0095. Epub 2020 Aug 27. PMID: 32851872. Link to article on publisher's site

Journal/Book/Conference Title

Journal of comparative effectiveness research


Full author list omitted for brevity. For the full list of authors, see article.

Related Resources

Link to Article in PubMed

PubMed ID


Creative Commons License

Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.