Indication

Cystic fibrosis with responsive CFTR mutation

Cystic fibrosis with a responsive CFTR mutation is a genetically defined subset of cystic fibrosis, a progressive autosomal recessive disorder affecting multiple organ systems, most notably the respiratory and gastrointestinal tracts. Read more about Cystic fibrosis with responsive CFTR mutation

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Common Cystic fibrosis with responsive CFTR mutation therapies.

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KALYDECO (ivacaftor)

CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH RESPONSIVE CFTR MUTATION
VERTEX PHARMACEUTICAL

SYMDEKO (tezacaftor/ivacaftor)

CYSTIC FIBROSIS TRANSMEMB. CONDUCT. REG. (CFTR) POTENTIATORS·CYSTIC FIBROSIS WITH HOMOZYGOUS F508DEL MUTATION IN CFTR GENE·+1
VERTEX PHARMACEUTICAL
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About Cystic fibrosis with responsive CFTR mutation.

Cystic fibrosis with a responsive CFTR mutation is a genetically defined subset of cystic fibrosis, a progressive autosomal recessive disorder affecting multiple organ systems, most notably the respiratory and gastrointestinal tracts.

The condition is caused by pathogenic variants in the cystic fibrosis transmembrane conductance regulator gene that yield a protein defect—such as impaired processing, gating, or conductance—capable of functional restoration when targeted by small-molecule modulators.

Pathophysiologically, defective CFTR channel activity impairs epithelial chloride and bicarbonate transport, dehydrating mucosal surfaces and generating thick, viscous secretions.

Clinically, affected patients experience chronic airway obstruction, recurrent bronchopulmonary infections, progressive bronchiectasis, and exocrine pancreatic insufficiency, but their specific genotype retains the molecular potential for pharmacologic enhancement of CFTR protein synthesis, trafficking, or open-channel probability.

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