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Clinical Review State of the Art Review

New and emerging targeted therapies for cystic fibrosis

BMJ 2016; 352 doi: (Published 30 March 2016) Cite this as: BMJ 2016;352:i859
  1. Bradley S Quon, clinician-scientist1,
  2. Steven M Rowe, director2
  1. 1Centre for Heart Lung Innovation and Division of Respiratory Medicine, Department of Medicine, University of British Columbia, Vancouver, BC, Canada, V6Z 1Y6
  2. 2Gregory Fleming James Cystic Fibrosis Research Center, Department of Medicine, Pediatrics and Cell Developmental and Integrative Biology, University of Alabama at Birmingham, Birmingham, AL, USA
  1. Correspondence to: B S Quon bradley.quon{at}


Cystic fibrosis (CF) is a monogenic autosomal recessive disorder that affects about 70 000 people worldwide. The clinical manifestations of the disease are caused by defects in the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The discovery of the CFTR gene in 1989 has led to a sophisticated understanding of how thousands of mutations in the CFTR gene affect the structure and function of the CFTR protein. Much progress has been made over the past decade with the development of orally bioavailable small molecule drugs that target defective CFTR proteins caused by specific mutations. Furthermore, there is considerable optimism about the prospect of gene replacement or editing therapies to correct all mutations in cystic fibrosis. The recent approvals of ivacaftor and lumacaftor represent the genesis of a new era of precision medicine in the treatment of this condition. These drugs are having a positive impact on the lives of people with cystic fibrosis and are potentially disease modifying. This review provides an update on advances in our understanding of the structure and function of the CFTR, with a focus on state of the art targeted drugs that are in development.


  • Contributors: Both authors contributed to the design of the work and drafting of the manuscript. BSQ created the first draft of the manuscript. Both authors approved the final version and are guarantors. The authors would like to thank Yeni Oh for her help with figure design and preparation and Richa Anand for her editing assistance.

  • Competing interests: We have read and understood BMJ policy on declaration of interests and declare the following: BSQ has had no financial relationships with any organizations that might have an interest in the submitted work in the previous three years; SMR has received travel reimbursements to attend investigators’ meetings held by Vertex Pharmaceuticals, Novartis, Bayer Healthcare, PTC Therapeutics. SMR has an unlicensed patent held by the University of Alabama Birmingham on the use of CFTR activators for the treatment of respiratory diseases unaffected by acquired or genetic causes of CFTR dysfunction. SMR has an unlicensed patent held by the University of Alabama Birmingham for the use of optical coherence tomography as a diagnostic tool.

  • Provenance and peer review: Commissioned; externally peer reviewed.

  • No patients were asked for input in the creation of this article.

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