[Cystic fibrosis: new treatments targeting the CFTR protein].

Abstract

Cystic fibrosis is an autosomal recessive genetic disease due to mutations in the (cystic fibrosis transmembrane conductance regulator) CFTR gene. The CFTR protein is a chloride channel expressed at the surface of several epithelial cells. Defective function of the CFTR protein leads to a severe disease in which lung disease is the leading cause of death. Current treatments are symptomatic. Nevertheless, with specialist and holistic care in dedicated cystic fibrosis centres, the median survival has improved. But the average age of death remains 29 years. Innovative molecules aiming to correct the CFTR protein itself are under development. These will be personalised treatments depending on the genotype or the type of CFTR dysfunction. The first molecule, ivacaftor, has just been approved in Europe and the USA. Adults and children treated with ivacaftor in clinical trials had a 10% improvement in FEV1 that was maintained for more than a year. Although at present ivacaftor is approved for only a small percentage of patients, the therapeutic strategy of correcting CFTR protein has been proved a valid approach. Other molecules targeting other defects in the CFTR protein are under evaluation.

• Authors: I Fajac, I Sermet-Gaudelus
• Journal: Revue des maladies respiratoires (Rev Mal Respir) Vol. 30 Issue 4 Pg. 255-61 (Apr 2013) ISSN: 1776-2588 [Electronic] France
• Vernacular Title: Mucoviscidose : nouvelles thérapeutiques ciblant la protéine CFTR.
• PMID: 23664284 (Publication Type: Journal Article, Review)
• Copyright: Copyright © 2012 SPLF. Published by Elsevier Masson SAS. All rights reserved.

Chemical References

• Aminophenols
• CFTR protein, human
• Quinolones
• Cystic Fibrosis Transmembrane Conductance Regulator
• ivacaftor

Topics

• Adult
• Aminophenols (therapeutic use)
• Animals
• Combined Modality Therapy (methods)
• Cystic Fibrosis (genetics, therapy)
• Cystic Fibrosis Transmembrane Conductance Regulator (agonists, genetics, metabolism)
• Genetic Therapy (methods)
• Humans
• Molecular Targeted Therapy (methods, trends)
• Quinolones (therapeutic use)
• Therapies, Investigational (methods, trends)