Results 21 to 30 of about 2,379 (179)

Elexacaftor/tezacaftor/ivacaftor as rescue therapy in a patient with the cystic fibrosis genotype F508DEL/G1244E

Clinical Case Reports, 2021
Elexacaftor/tezacaftor/ivacaftor (ETI) is a cystic fibrosis (CF) transmembrane regulator (CFTR) modulator. It is known to be efficacious in stable patients with severe pneumopathy, but there are few data concerning its effectiveness during acute ...
Donatello Salvatore, Carmela Colangelo, Michele D’Andria, Giovanni Marsicovetere, Domenica Passarella   +4 more
doaj   +1 more source

Novel CFTR modulator combinations maximise rescue of G85E and N1303K in rectal organoids

ERJ Open Research, 2022
Introduction Cystic fibrosis (CF) is a severe monogenic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Marjolein M. Ensinck, Liesbeth De Keersmaecker, Anabela S. Ramalho, Senne Cuyx, Stephanie Van Biervliet, Lieven Dupont, Frauke Christ, Zeger Debyser, François Vermeulen, Marianne S. Carlon   +9 more
doaj   +1 more source

Elexacaftor-Tezacaftor-Ivacaftor: A Life-Changing Triple Combination of CFTR Modulator Drugs for Cystic Fibrosis

Pharmaceuticals, 2023
Cystic fibrosis (CF) is a potentially fatal monogenic disease that causes a progressive multisystemic pathology. Over the last decade, the introduction of CF transmembrane conductance regulator (CFTR) modulator drugs into clinical practice has profoundly
Mafalda Bacalhau, Mariana Camargo, Grace A. V. Magalhães-Ghiotto, Sybelle Drumond, Carlos Henrique M. Castelletti, Miquéias Lopes-Pacheco   +5 more
doaj   +1 more source

Elexacaftor-Tezacaftor- Ivacaftor improves sinonasal outcomes in cystic fibrosis

Journal of Cystic Fibrosis, 2022
Many individuals with cystic fibrosis (CF) have chronic rhinosinusitis resulting in nasal obstruction, sinus infections, and repeated surgeries. Elexacaftor-tezacaftor-ivacaftor is a highly effective modulator therapy approved for individuals aged 6 years or older with CF who have at least one F508del allele or other responsive mutation.
Amanda L, Stapleton, Adam J, Kimple, Jennifer L, Goralski, S Mehdi, Nouraie, Barton F, Branstetter, Amber D, Shaffer, Joseph M, Pilewski, Brent A, Senior, Stella E, Lee, Anna C, Zemke   +9 more
openaire   +2 more sources

Effect of elexacaftor/tezacaftor/ivacaftor on systemic inflammation in cystic fibrosis. [PDF]

Thorax
Background Despite significant clinical improvements, there is evidence of persisting airway inflammation in people with cystic fibrosis (CF) established on elexacaftor/tezacaftor/ivacaftor (ETI) therapy. As CF is a multi-system disease, systemic immune profiles can reflect local inflammation within the lungs and ...
Maher RE, Cytlak-Chaudhuri UM, Aleem S, Barry P, Brice DP, Caamaño Gutiérrez E, Driver K, Emmott E, Rothwell A, Smith E, Travis M, Lee D, McNamara PS, Waller I, Smith JA, Jones A, Lord RW.   +16 more
europepmc   +5 more sources

Frequency of CFTR variants in southern Brazil and indication for modulators therapy in patients with cystic fibrosis

Genetics and Molecular Biology, 2021
This is a descriptive cross-sectional study that aims to determine the distribution of the CFTR causing variant in a group of patients at a cystic fibrosis (CF) center in southern Brazil, as well as to describe causing variants that are treatable with ...
Eliandra da Silveira Lima, Luíse Sgarabotto Pezzin, Ana Carolina Fensterseifer, Leonardo Araújo Pinto   +3 more
doaj   +1 more source

Impact of Elexacaftor/Tezacaftor/Ivacaftor Therapy on the Cystic Fibrosis Airway Microbial Metagenome

Microbiology Spectrum, 2022
The introduction of mutation-specific combination therapy with the cystic fibrosis transmembrane conductance regulator (CFTR) modulators elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) has substantially improved lung function and quality of life of people
Sophia T. Pallenberg, Marie-Madlen Pust, Ilona Rosenboom, Gesine Hansen, Lutz Wiehlmann, Anna-Maria Dittrich, Burkhard Tümmler   +6 more
doaj   +1 more source

Elexacaftor–Tezacaftor–Ivacaftor improves exercise capacity in adolescents with cystic fibrosis [PDF]

Pediatric Pulmonology, 2022
AbstractObjectiveElexacaftor/Tezacaftor/Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) modulator with the potential to improve exercise capacity. This case series of three adolescents with CF aimed to investigate whether 6 weeks treatment with Elexacaftor/Tezacaftor/Ivacaftor could improve exercise capacity in CFTR modulator ...
Adam J. Causer, Janis K. Shute, Michael H. Cummings, Anthony I. Shepherd, Samuel R. Wallbanks, Richard M. Pulsford, Victoria Bright, Gary Connett, Zoe L. Saynor   +8 more
openaire   +3 more sources

CFTR Modulators in People with Cystic Fibrosis: Real-World Evidence in France

Cells, 2022
Cystic fibrosis (CF) is a rare genetic multisystemic disease, the manifestations of which are due to mutations in the gene encoding the CF transmembrane conductance regulator (CFTR) protein and can lead to respiratory insufficiency and premature death ...
Lucile Regard, Clémence Martin, Espérie Burnet, Jennifer Da Silva, Pierre-Régis Burgel   +4 more
doaj   +1 more source

Elexacaftor–Tezacaftor–Ivacaftor for Cystic Fibrosis with a Single Phe508del Allele

New England Journal of Medicine, 2019
Cystic fibrosis is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein, and nearly 90% of patients have at least one copy of the Phe508del CFTR mutation. In a phase 2 trial involving patients who were heterozygous for the Phe508del CFTR mutation and a minimal-function mutation (Phe508del ...
Middleton P. G., Mall M. A., Drevinek P., Lands L. C., McKone E. F., Polineni D., Ramsey B. W., Taylor-Cousar J. L., Tullis E., Vermeulen F., Marigowda G., McKee C. M., Moskowitz S. M., Nair N., Savage J., Simard C., Tian S., Waltz D., Xuan F., Rowe S. M., Jain R., Magazzu G.   +21 more
openaire   +3 more sources