Off-label use of Ataluren in non-ambulatory nmDMD patients

About 15% of Duchenne muscular dystrophy (DMD) cases are caused by point mutations leading to premature stop codons and disrupted synthesis of the dystrophin protein. Following positive results in ambulatory nmDMD (non-sense mutation Duchenne muscular dystrophy) patients, Ataluren (Translarna® by PTC Therapeutics) received conditional approval in ambulant nmDMD patients. However, there are limited data on non-ambulatory nmDMD patients treated with Ataluren. Here, the authors describe their experience in four non-ambulatory nmDMD patients. Routine investigations included cardiac function, pulmonary function tests and muscle strength. They compared changes in left ventricular fractional shorting, forced volume vital capacity and BMI from two defined time periods (18-26-month period prior to and after Ataluren start). Mean age at loss of ambulation was 10.1 ± 0.5 years, mean age when initiating Ataluren treatment 14.1 ± 1.4 years. Serial echocardiography, pulmonary lung function tests, and assessment of muscle strength indicated mild attenuation of disease progression after initiation of Ataluren treatment. There were no adverse clinical effects or relevant abnormalities in routine laboratory values. The authors conclude that Ataluren appears to mildly ameliorate the clinical course in these patients with a good safety profile.

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Ebrahimi-Fakhari D, Dillmann U, Flotats-Bastardas M, et al. Off-Label Use of Ataluren in Four Non-ambulatory Patients With Nonsense Mutation Duchenne Muscular Dystrophy: Effects on Cardiac and Pulmonary Function and Muscle Strength. Front Pediatr. 2018;6:316. Published 2018 Oct 23.