Daniel Ebrahimi-Fakhari, Ulrich Dillmann, Marina Flotats-Bastardas, Martin Poryo, Hashim Abdul-Khaliq, Mohammed Ghiath Shamdeen, Bernhard Mischo, Michael Zemlin, Sascha Meyer
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. Stop codon read-through therapy is available with the drug Ataluren (Translarna® by PTC Therapeutics). Following positive results in ambulatory nmDMD (non-sense mutation Duchenne muscular dystrophy) patients, Ataluren received conditional approval in ambulant nmDMD patients by the EMA in 2014. However, there are limited data on non-ambulatory nmDMD patients treated with Ataluren...
2018: Frontiers in Pediatrics