Ataluren for the treatment of cystic fibrosis

Expert Rev Respir Med. 2016 Apr;10(4):387-391. doi: 10.1586/17476348.2016.1150181. Epub 2016 Feb 24.


Alleles causing diseases that carry premature termination codons (PTCs) will cause premature cessation of translation, leading to loss of function and consequent disease. Recently, a novel agent, Ataluren, was developed through a high throughput screening program. Ataluren is orally bioavailable and was shown to be effective in Cystic Fibrosis (CF). Phase I and II studies established the safety and dosing regimens for Ataluren. The results of a short study showed modest improvements in pulmonary function and a reduction in quantitative cough assessment. There was improvement in nasal potential difference and nasal epithelial CFTR protein. In a phase III trial this effect was not observed in patients that were concomitantly treated with tobramycin inhalation. Following these positive findings, a multinational Phase III placebo-controlled efficacy trial is currently underway.

Keywords: Ataluren; Cystic fibrosis; ivacaftor; molecular consequences of class of mutation; premature termination codons; therapy directed at the basic defect.