DMD – THERAPY: P.292 Ataluren delays loss of ambulation and decline in pulmonary function in patients with nonsense mutation Duchenne muscular dystrophy

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Duchenne muscular dystrophy (DMD) is a fatal, rare, X-linked disease characterized by progressive muscle weakness. Approximately 10–15% of DMD cases are caused by a nonsense mutation (nmDMD) in the dystrophin gene, resulting in the absence of functional dystrophin. Ataluren (10, 10, 20 mg/kg [morning, midday, and evening]) targets the underlying cause of nmDMD, enabling the formation of full-length, dystrophin. Study 019 was a phase 3, long-term safety study that enrolled nmDMD patients from prior ataluren clinical trials (NCT01557400) (N=94).