TranslarnaTM was designated an ‘orphan medicine’ in 2005, and ever since, it has been widely studied in the clinics for the treatment of patients affected with genetic diseases arising from nonsense mutations in different pathological contexts, including Duchenne Muscolar Dystrophy (DMD) gene in Duchenne muscular dystrophy, Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) in cystic fibrosis, Coagulation Factor VIII (FVIII) and Coagulation Factor IX (FIX) in hemophilia A and B, and Methylmalonyl-CoA mutase (MCM) and 5′-deoxyadenosylcobalamine (AdoCbl) in methylmalonic acidemia. Here, MMUT is linked to cystic fibrosis.