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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Cystic fibrosis (CF) is an autosomal recessive disorder that predominantly affects individuals of Northern European descent, occurring at a rate of 1 in 3500. It is caused by a genetic mutation in a gene on chromosome 7, most commonly the ΔF508 mutation, that codes for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. This results in thicker mucus secretions and obstruction pathologies in multiple organs, including the lungs and sinuses.
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Cystic fibrosis.

Marcus A Mall1,2,3, Pierre-Régis Burgel4,5, Carlo Castellani6

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Cystic fibrosis (CF) is a genetic disorder caused by CFTR gene mutations. New CFTR modulator therapies offer significant benefits but leave many patients with unmet medical needs.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Pulmonology

Background:

  • Cystic fibrosis (CF) is a rare genetic disease stemming from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
  • CFTR protein dysfunction disrupts ion and fluid transport, leading to multi-organ disease, primarily muco-obstructive lung disease.
  • Historically, CF care focused on symptom management, including nutritional support, airway clearance, and antibiotics.

Purpose of the Study:

  • To review the discovery of CFTR and the evolution of CFTR-directed therapeutics.
  • To highlight the impact of recent CFTR modulator therapies on the CF treatment landscape.
  • To identify the unmet medical needs in the CF population.

Main Methods:

  • Literature review of CFTR discovery and therapeutic development.
  • Analysis of the clinical benefits and limitations of current CFTR modulator therapies.
  • Examination of the current unmet medical needs in CF patient populations.

Main Results:

  • The discovery of CFTR enabled understanding of disease mechanisms and development of targeted therapies.
  • Highly effective triple combination CFTR modulator therapy has transformed prognosis for up to 90% of eligible patients.
  • A significant unmet medical need persists for CF patients ineligible for or lacking access to current modulator therapies.

Conclusions:

  • CFTR modulator therapies represent a breakthrough, fundamentally altering CF care.
  • Despite advances, a substantial portion of the CF population still requires novel therapeutic strategies.
  • Further research and equitable access are crucial to address the remaining challenges in cystic fibrosis treatment.