Tezacaftor–Ivacaftor in Residual-Function Heterozygotes with Cystic Fibrosis
Hadassah Medical Center · University of Alabama at Birmingham · +6 more institutions
Abstract
Cystic fibrosis is an autosomal recessive disease caused by mutations in the CFTR gene that lead to progressive respiratory decline. Some mutant CFTR proteins show residual function and respond to the CFTR potentiator ivacaftor in vitro, whereas ivacaftor alone does not restore activity to Phe508del mutant CFTR.
) from the baseline value to the average of the week 4 and week 8 measurements in each intervention period.
was 6.8 percentage points for tezacaftor-ivacaftor and 4.7 percentage points for ivacaftor alone (P
Citation impact
- FWCI
- 45.13
- Percentile
- 100%
- References
- 34
Authors
13- SMSteven M. RoweCorresponding
Hadassah Medical Center, University of Alabama at Birmingham
- CDCori Daines
University of Arizona, Hadassah Medical Center
- FCFelix C. Ringshausen
Hadassah Medical Center, German Center for Lung Research
- EKEitan Kerem
Hadassah Medical Center
- JWJohn Wilson
Hadassah Medical Center, Alfred Health
Topics & keywords
- Ivacaftor
- Cystic fibrosis
- Potentiator
- Medicine
- Heterozygote advantage
- Mutant
- Mutation
- Cystic fibrosis transmembrane conductance regulator