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[New therapies for cystic fibrosis targeting the CFTR gene or the CFTR protein]

D Hubert1, S Bui2, C Marguet3

  • 1Service 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.

Revue Des Maladies Respiratoires
|January 26, 2016
PubMed
Abstract

Insights

New therapies targeting cystic fibrosis transmembrane conductance regulator (CFTR) protein function offer improved respiratory outcomes. Ivacaftor and combination therapies show promise, with ongoing development of novel CFTR modulators.

Area of Science:

  • Pulmonology and Genetic Medicine
  • Pharmacological Interventions for Genetic Diseases

Background:

  • Cystic fibrosis (CF) treatment traditionally focused on symptom management.
  • Emerging therapies now target the underlying defect: CFTR protein dysfunction.

Purpose of the Study:

  • To review recent advancements in CFTR protein-targeting therapies for cystic fibrosis.
  • To highlight the efficacy of CFTR modulators in improving respiratory function.

Main Methods:

  • Review of clinical trial data and marketing authorizations for CFTR modulators.
  • Analysis of treatment outcomes, including FEV1 improvement and exacerbation frequency.

Main Results:

  • Ivacaftor, a CFTR potentiator, demonstrated significant FEV1 increase (10%) and reduced exacerbations in patients with gating mutations (Class III).
  • Combination therapy (ivacaftor/lumacaftor) showed respiratory improvement in homozygous F508del patients.
  • Ataluren's efficacy for nonsense mutations is under investigation.

Conclusions:

  • Development of novel CFTR correctors and potentiators is advancing.
  • CFTR protein therapy holds potential to alter cystic fibrosis disease progression.
  • Cost-effectiveness of new therapies requires careful consideration.
Keywords:
Clinical trialsCystic fibrosisCystic fibrosis transmembrane conductance regulatorEssais cliniquesGene therapyIvacaftorMucoviscidoseThérapie génique

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