Table 5a.

Targeted Therapy for Cystic Fibrosis

CFTR Modulator TherapyIndications 1
Ivacaftor In those age ≥4 mos w/at least 1 responsive CFTR pathogenic variant 2
Lumacaftor/ivacaftor In those age ≥1 yr & homozygous for p.Phe508del
Tezacaftor/ivacaftor In those age ≥6 yrs & homozygous for p.Phe508del
Elexacaftor/tezacaftor/ivacaftor In those age ≥6 yrs & heterozygous for p.Phe508del & a minimal function variant 3 or other known responsive pathogenic variant

CFTR = cystic fibrosis transmembrane conductance regulator

1.
2.

CFTR variants that are responsive to ivacaftor include variants that result in a CFTR protein that reaches the cell surface but ion channel opening is impaired (i.e., gating pathogenic variants; see Genotype-Phenotype Correlations and Table 7).

3.

Minimal function variants are CFTR pathogenic variants that result in little to no functional protein [Jia & Taylor-Cousar 2023].

From: Cystic Fibrosis

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