Duchenne muscular dystrophy (DMD), affects ~1 in every 3600–6000 live male births and is caused by dystrophin gene mutations. Forced vital capacity (FVC) < 1 L raises mortality risk in DMD patients. About 10–15% of patients have a dystrophin gene nonsense mutation (nonsense mutation DMD [nmDMD]). Ataluren promotes ribosomal readthrough of the premature stop codon to produce a full-length dystrophin protein. FVC data from non-ambulatory patients (unable to run/walk 10 m in
≤ 30 seconds) aged 9 to 18 years receiving oral ataluren (40 mg/kg/day [10, 10, and 20 mg/kg)]) were obtained from Study 019 (NCT01557400; begun in 2012; data cut-off Jan. 31, 2017), a, multicenter, open-label trial that enrolled patients from previous ataluren trials. Data for age-matched, non-ambulatory patients in subjects receiving SOC (not ataluren) were obtained from a natural history study (CINRG, NCT00468832; from 2012 through Nov.18, 2016) and compared to 019 FVC < 1L by Kaplan-Meier analysis.
Subgroups included 38 ataluren- and 58 SOC-treated patients. Fewer ataluren-treated vs SOC-treated patients had FVC <1 L (7.9% vs 39.7%, respectively). FVC < 1L was reached by 50% of SOC-treated patients after 7.1 years (5.3–9.4) with SOC (log-rank test p = 0.067); 10% of ataluren-treated patients had FVC <1L after 4 years. Most adverse events (AEs) on ataluren were mild (29.5% of patients) or moderate (31.8% of patients).

Ataluren preserves lung function in non-ambulatory patients with nmDMD. Safety and tolerability were consistent with previous findings.