title: [New therapies for cystic fibrosis targeting the CFTR gene or the CFTR protein].
abstract: BACKGROUND
  The treatment of cystic fibrosis has been symptom-based for a number of years. New therapies that aim to improve CFTR protein function are now emerging.
  The results of gene therapy has been modest but a recent clinical trial shows a positive effect on FEV1. Recent research has focused primarily on CFTR protein function. Significant respiratory improvement (an average 10% FEV1 increase and a decrease in the frequency of exacerbations) has been achieved with ivacaftor, a CFTR potentiator, in patients with gating mutations, resulting in its marketing authorization (in 2012 for the G551D mutation and in 2015 for rarer mutations). In phe508del homozygous patients, the combination of ivacaftor with a CFTR corrector (lumacaftor) has also led to respiratory improvement, albeit less impressive. The effectiveness of ataluren in patients with nonsense mutations is being evaluated.
  
  
  CONCLUSIONS
  New CFTR correctors and potentiators are being developed. CFTR protein therapy could change the course of the disease but cost/effectiveness issues should not be overlooked.
  
  
  CONCLUSIONS
  Ivacaftor can be prescribed in CF patients with a class 3 mutation from the age of 6 years. The Orkambi®will soon be available for homozygous phe508del patients from the age of 12 years.
authors.affiliation: Service de pneumologie, centre de ressources et de compétences de la mucoviscidose, hôpital Cochin, Assistance publique-Hôpitaux de Paris, 75014 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, 75014 Paris, France. Electronic address: dominique.hubert@aphp.fr.
authors.forename: D
authors.initials: D
authors.lastname: Hubert
authors.affiliation: Service de pneumologie pédiatrique, centre de ressources et de compétences de la mucoviscidose pédiatrique, CIC 1401, CHU Pellegrin, 33000 Bordeaux, France.
authors.forename: S
authors.initials: S
authors.lastname: Bui
authors.affiliation: Département de pédiatrie médicale, centre de ressources et de compétences de la mucoviscidose pédiatrique, CHU Charles-Nicolle, 76000 Rouen, France.
authors.forename: C
authors.initials: C
authors.lastname: Marguet
authors.affiliation: Vaincre la Mucoviscidose, 75013 Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Colomb-Jung
authors.affiliation: Service de pneumologie-allergologie, centre de ressources et de compétences de la mucoviscidose adulte, hôpital Larrey, CHU de Toulouse, 31000 Toulouse, France.
authors.forename: M
authors.initials: M
authors.lastname: Murris-Espin
authors.affiliation: UMR-S938, CDR Saint-Antoine, service de pneumologie pédiatrique, centre de ressources et de compétences de la mucoviscidose, hôpital Trousseau, UPMC université - Paris 06, Sorbonne universités, 75012 Paris, France.
authors.forename: H
authors.initials: H
authors.lastname: Corvol
authors.affiliation: Centre de ressources et de compétences de la mucoviscidose, hôpital Robert-Debré, Assistance publique-Hôpitaux de Paris, université Paris 7, 75019 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Munck
mesh_terms: D000367:Age Factors; D000627:Aminophenols / Q000627:therapeutic use; D000631:Aminopyridines / Q000627:therapeutic use; D052117:Benzodioxoles / Q000627:therapeutic use; D002648:Child; D003550:Cystic Fibrosis / Q000188:drug therapy / Q000235:genetics* / Q000628:therapy*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000037:antagonists & inhibitors / Q000235:genetics* / Q000378:metabolism*; D004338:Drug Combinations; D015316:Genetic Therapy / Q000379:methods*; D006801:Humans; D058990:Molecular Targeted Therapy / Q000379:methods* / Q000639:trends; D015363:Quinolones / Q000627:therapeutic use
chemical_list: D000627:Aminophenols; D000631:Aminopyridines; D052117:Benzodioxoles; C505032:CFTR protein, human; D004338:Drug Combinations; D015363:Quinolones; C000599212:lumacaftor, ivacaftor drug combination; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C545203:ivacaftor
keywords: Clinical trials; Cystic fibrosis; Cystic fibrosis transmembrane conductance regulator; Essais cliniques; Gene therapy; Ivacaftor; Mucoviscidose; Thérapie génique