New Therapeutic Approaches in Cystic Fibrosis


  • Dolunay Merve FAKIOĞLU
  • Beril Altun

Received Date: 14.02.2020 Accepted Date: 04.05.2020 Turk J Pharm Sci 0;0(0):0-0 [e-Pub]

Cystic Fibrosis (CF) is a hereditary, multisystemic disease caused by different mutations in the CFTR gene encoding Cystic Fibrosis Transmebrane Conductance Regulator (CFTR). Cystic fibrosis is characterized by mainly pulmonary dysfunction as a result of deterioration in the mucociliary clearance and anion transport of airways. Mortality is mostly caused by bronchiectasis, bronchioles obstruction and progressive respiratory dysfunction at the early age of life. Over the last decade, new therapeutic strategies rather than symptomatic treatment have been proposed, such as small molecule approach, ion channel therapy and pulmonary gene therapy. Due to considerable progress in the treatment options, cystic fibrosis has become an adult disease rather than a pediatric disease in recent years. Pulmonary gene therapy has gained special attention due to its mutation type independent aspect, therefore applicable to all cystic fibrosis patients. Major obstacle is to predict the drug response of cystic fibrosis patients due to genetic complexity and heterogeneity. The advancement of 3D culture systems has made it possible to extrapolate the disease modelling and individual drug response in vitro by producing mini adult organ that have been termed “organoids’ from the rectal cell biopsies. In this review, we aimed to summarize the progress in the novel therapeutic approaches, ongoing clinical trials, and precision medicine concept for cystic fibrosis.

Keywords: Cystic fibrosis, gene therapy, gene modulators, rectal organoids