Cystic fibrosis precision therapeutics: Emerging considerations

Area of Science:

• Biochemistry
• Genetics
• Pharmacology

Background:

• Cystic fibrosis (CF) is a genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
• Small molecule modulators have revolutionized CF treatment by addressing underlying CFTR protein dysfunction.

Purpose of the Study:

• To review the advancements in precision medicine for CF.
• To highlight remaining challenges in CFTR-targeted therapies.

Main Methods:

• Review of current literature on CFTR modulators and precision medicine approaches.
• Analysis of approved CFTR modulator therapies (ivacaftor, lumacaftor, tezacaftor, elexacaftor).

Main Results:

• Significant progress has been made in developing effective triple drug combinations for CF treatment.
• Current therapies show promise for the majority of CF patients worldwide.

Conclusions:

• Despite advancements, challenges persist for refractory CFTR variants and ultrarare CF forms.
• The CF experience serves as a model for personalized interventions in other genetic diseases.