Objective: Ataluren is the first drug approved in the EU for the treatment of nonsense mutation Duchenne muscular dystrophy (nmDMD). This meta-analysis evaluated  the efficacy of ataluren in patients with nmDMD across a phase 2b (NCT00592553) and a phase 3 study (NCT01826487).

Methods: Patients in the phase 2b study who met the phase 3 inclusion criteria were included in this analysis. Boys (7–16 years) with nmDMD, baseline 6-minute walk distance (6MWD) of ≥150 m and ≤80% of that predicted for their age and height, and ≥6 months of steroid use, received ataluren (orally, dosed 10, 10, 20 mg/kg/day) or placebo for 48 weeks. The primary endpoint was week 48 change from baseline in 6MWD. Week 48 changes in timed function tests (TFTs) were also assessed. The meta-analysis was repeated using all patients in the phase 2b study.

Results: Overall, 291 patients were included in this analysis (phase 2b: ataluren, n=32; placebo, n=31; phase 3: ataluren, n=114; placebo, n=114). A benefit of 21.1 m in 6MWD (p=0.0193) was observed in patients who received ataluren compared with placebo. Patients receiving ataluren also showed statistically significant improvements in time to run/walk 10 m (−1.4 s; p=0.0251), time to climb 4 stairs (−1.6 s; p=0.0184), and time to descend 4 stairs (−2.0 s; p=0.0044) versus placebo. Similar results were obtained when all patients were included (all endpoints, p<0.05).

Conclusions: Patients who received ataluren over 48 weeks experienced a statistically significant clinical benefit, as measured by 6MWD and TFTs, compared with placebo.