ICNC Abstracts, ICNC 2018

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Preservation of Function over time as Measured by North Star Ambulatory Assessment in Ambulatory Boys with Nonsense Mutation Muscular Dystrophy Treated with Ataluren
Craig M McDonald, LJ Wei, Gary L Elfring, Panayiota Trifillis, Francesco Bibbiani, Marcio Souza, Joseph McIntosh, Stuart W Peltz, Francesco Muntoni

Last modified: 2018-09-09


Ataluren is promotes readthrough of a nonsense mutation to produce full-length functional dystrophin protein. ACT DMD was a 48-week, multicenter, randomized, double-blind, placebo controlled study that compared the efficacy and safety of ataluren vs placebo in ambulatory boys with nmDMD and enrolled boys aged 7−16 years and a baseline 6-minute walk distance (6MWD) of 150 m or more and having ≤80% of the predicted normal value at baseline (n=228).  The North Star Ambulatory Assessment (NSAA) is a validated tool that assesses disease progression in ambulatory boys with DMD. In the present analysis, loss of function (failures) from 17 tasks was evaluated for each patient at various time points over the entire study duration. The average cumulative number of failures over time was then obtained over all study patients for each treatment group, which can be plotted to show the temporal profile of treatment. Graphically, the curve for the placebo is uniformly higher than that of ataluren. The ratio of the above two curves can then be used as an overall measure of treatment effect (i.e., treatment divided by placebo) This a resulted in a ratio of 0.73 (95% CI, 0.55-0.97; p=0.027), indicating that, ataluren treatment significantly reduces the cumulative number of failures by 27% over 48 weeks vs placebo.  Separation between these two curves is seen as early as 32 weeks and continues to diverge over the 48 weeks.  The results suggest preservation of physical function with ataluren therapy in ambulatory boys with nmDMD.


North Star Ambulatory Assessment; Duchenne muscular dystrophy; ataluren; preservation of function

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