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Purification of the Cystic Fibrosis Transmembrane Conductance Regulator Protein Expressed in Saccharomyces cerevisiae
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Searching for a cure for cystic fibrosis. A 25-year quest in a nutshell

Barbara Bosch1, Kris De Boeck2

  • 1Department of Paediatric Pulmonology, University Hospitals Leuven, Herestraat 49, 3000, Leuven, Belgium. barbara.bosch@uzleuven.be.

European Journal of Pediatrics
|November 17, 2015
PubMed

Insights

Cystic fibrosis (CF) treatments are advancing, with new cystic fibrosis transmembrane conductance regulator (CFTR) modulators showing promise. While a cure remains elusive, these therapies offer hope for improving the lives of individuals with CF.

Area of Science:

  • Medical Research
  • Genetics
  • Pharmacology

Background:

  • Cystic fibrosis (CF) is a prevalent, life-shortening genetic disorder without a current cure.
  • Significant progress has been made in understanding CF's fundamental defect and developing corrective strategies.
  • Disease-modifying drugs targeting various CF mutation classes are in development.

Purpose of the Study:

  • To provide clinicians with an update on recent advancements in CF treatment.
  • To review the current CF research pipeline and emerging therapeutic strategies.
  • To highlight the paradigm shift in CF research, influencing trials for other inherited diseases.

Main Methods:

  • Review of clinical trial data for novel CFTR modulators.
  • Analysis of research strategies for CF treatment development.
  • Synthesis of current knowledge on CF pathophysiology and therapeutic targets.

Main Results:

  • The first cystic fibrosis transmembrane conductance regulator (CFTR) modulators have been introduced, demonstrating clinical benefits.
  • Ivacaftor, a potentiator, shows significant efficacy in patients with specific Class III defects.
  • Combination therapies like lumacaftor/ivacaftor offer limited benefits for F508del homozygous subjects.

Conclusions:

  • Current CFTR modulators prove that the basic defect in CF can be modified.
  • Ongoing research and drug development hold promise for transforming CF from a life-shortening to a manageable disease.
  • The CF research pipeline continues to yield innovative treatments for all mutation classes.
Keywords:
CFTRClinical trialsCorrectorCystic fibrosisN-of-1 trialOrganoidsPotentiator

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