Results 11 to 20 of about 1,231,622 (330)

CFTR Modulator Therapy for Rare CFTR Mutants

Journal of Respiration, 2022
Cystic fibrosis (CF), the most common genetic disease among the Caucasian population, is caused by mutations in the gene encoding for the CF transmembrane conductance regulator (CFTR), a chloride epithelial channel whose dysfunction results in severe ...
Marco Mergiotti, Alessandra Murabito, Giulia Prono, Alessandra Ghigo   +3 more
doaj   +3 more sources

Changes in the Cystic Fibrosis Airway Microbiome in Response to CFTR Modulator Therapy

Frontiers in Cellular and Infection Microbiology, 2021
The development of CFTR modulator therapies significantly changed the treatment scheme of people with cystic fibrosis. However, CFTR modulator therapy is still a life-long treatment, which is not able to correct the genetic defect and cure the disease ...
Buqing Yi, Alexander H. Dalpke, Sébastien Boutin, Sébastien Boutin   +3 more
doaj   +2 more sources

CFTR Modulator Therapies: Potential Impact on Airway Infections in Cystic Fibrosis. [PDF]

Cells, 2022
Cystic Fibrosis (CF) is an autosomal recessive disease caused by mutations in the gene encoding for the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) protein, expressed on the apical surface of epithelial cells.
Saluzzo F, Riberi L, Messore B, Loré NI, Esposito I, Bignamini E, De Rose V.   +6 more
europepmc   +2 more sources

Identification of early changes in multiple biomarkers following CFTR modulator initiation in patients with cystic fibrosis [PDF]

Therapeutic Advances in Respiratory Disease
Background: There are currently no early parameters that allow prediction of long-term responses to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator treatment on an individual level.
Pascal Heer, Clara Fernandez Elviro, Angela Koutsokera, Anne Mornand, Isabelle Rochat, Nicolas Regamey, Sylvain Blanchon   +6 more
doaj   +2 more sources

Organic Synthesis and Current Understanding of the Mechanisms of CFTR Modulator Drugs Ivacaftor, Tezacaftor, and Elexacaftor. [PDF]

Molecules
The monogenic rare disease Cystic Fibrosis (CF) is caused by mutations in the gene encoding the CF transmembrane conductance (CFTR) protein, an anion channel expressed at the apical plasma membrane of epithelial cells.
Ferreira FC, Buarque CD, Lopes-Pacheco M.   +2 more
europepmc   +2 more sources

Changing profile of bacterial infection and microbiome in cystic fibrosis: when to use antibiotics in the era of CFTR-modulator therapy. [PDF]

Eur Respir Rev
The advent of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy, especially the triple therapy combining the drugs elexacaftor, tezacaftor, ivacaftor (ETI), has significantly changed the course of the disease in people with ...
Milczewska J, Syunyaeva Z, Żabińska-Jaroń A, Sands D, Thee S.   +4 more
europepmc   +2 more sources

CFTR Modulator Response in Nasal Organoids Derived from People with Cystic Fibrosis [PDF]

Cells
Despite the progressive extension of CFTR variant eligibility to the triple combination of elexacaftor/tezacaftor/ivacaftor (ETI), most rare CFTR pathogenic variants remain ineligible for CFTR modulators.
Stefania Lo Cicero, Germana Castelli, Aurora Ceci, Anna Maria Cerio, Giovanna Blaconà, Mariarita Virgulti, Sara Allushi, Giovanni Sette, Francesca Spadaro, Felice Amato, Paola Melotti, Claudio Sorio, Giuseppe Cimino, Mauro Biffoni, Marco Lucarelli, Adriana Eramo   +15 more
doaj   +2 more sources

Laboratory Tools to Predict CFTR Modulator Therapy Effectiveness and to Monitor Disease Severity in Cystic Fibrosis. [PDF]

J Pers Med
The implementation of cystic fibrosis (CF) transmembrane conductance regulator (CFTR) modulator drugs into clinical practice has been attaining remarkable therapeutic outcomes for CF, a life-threatening autosomal recessive genetic disease. However, there
Bacalhau M, Camargo M, Lopes-Pacheco M.
europepmc   +2 more sources

Long-term effectiveness of dual CFTR modulator treatment of cystic fibrosis. [PDF]

ERJ Open Res, 2022
Background Although short-term efficacy of lumacaftor/ivacaftor and tezacaftor/ivacaftor is clearly established in clinical trials, data on long-term effectiveness is limited.
Muilwijk D, Zomer-van Ommen DD, Gulmans VAM, Eijkemans MJC, van der Ent CK, Dutch Cystic Fibrosis Registry (NCFR) Steering Group: .   +5 more
europepmc   +2 more sources

Combined CFTR modulator therapies are linked with anabolic benefits and insulin-sparing in cystic fibrosis-related diabetes [PDF]

Journal of Clinical & Translational Endocrinology, 2023
Aims: Combined CFTR modulator therapies have dramatically altered pulmonary outcomes in patients with cystic fibrosis (CF). Their impact on glucose metabolism requires further investigations.
Fabian Lurquin, Sophie Gohy, Michel P. Hermans, Vanessa Preumont   +3 more
doaj   +2 more sources