Cystic fibrosis is a severe ion channel disease of autosomal recessive inheritance that is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Current therapy is still mainly symptomatic, but meanwhile CFTR modulators have arrived to the clinic that target the basic defect in cystic fibrosis of impaired epithelial conductance for chloride and bicarbonate. There are two classes of CFTR modulators: Potentiators increase the activity of CFTR at the cell surface and correctors facilitate the translation, folding, maturation and trafficking of mutant CFTR to the cell surface and/or prevent its premature degradation. By 2019, the triple combination of the potentiator ivacaftor and the two correctors elexacaftor and tezacaftor became available for the treatment of the more than 90% of people with cystic fibrosis who harbour at least one CFTR allele that is responsive to this medication.
The phase 3 studies examined the clinical response to triple modulator therapy in cohorts with moderate lung disease. An increase of lung function, anthropometry and quality of life was observed that was qualified as a game changer of cystic fibrosis therapy. We are currently in the hot phase to learn the impact of CFTR modulation with elexacaftor/tezacaftor/ivacaftor on the pathophysiology, clinical manifestation, diagnostics and therapy of cystic fibrosis under real-world conditions. Frontiers in Pharmacology invites the cystic fibrosis community to share their real-world experience with their peers.
Authors are invited to submit Original Research Articles, Case Reports or timely MiniReviews that report on the real-world evidence of elexacaftor/tezacaftor/ivacaftor therapy in people with cystic fibrosis and the change of diagnostic or therapeutic modalities. Authors may choose any subject that they consider to be relevant for their peers. Emphasis on longitudinal observations would be appreciated. Major topics are:
• Sustainability of improvement of cystic fibrosis airway and/or intestinal disease (assessed by clinical investigation, imaging and/or functional assays)
• Sustainability of improvement of CFTR biomarkers
• Assessment of clinical efficacy in patients with rare CFTR mutation genotypes
• Adherence to modulator therapy and the symptomatic treatment programmes
• Adaptation of the symptomatic treatment programme (e.g., physiotherapy, nebulized therapies, supplementation of pancreatic enzymes, salt and vitamins) and clinical outcomes
• Pharmacokinetics, metabolism and drug-drug interactions
• Impact of triple therapy on airway and/or gut microbiology, inflammation and/or host defense
• Case reports on triple therapy in pregnant women, pre-schoolers, elderly above 50 years of age, individuals with end-stage lung disease or individuals with relative contraindications to prescribe triple therapy
• Adverse reactions and side effects of elexacaftor/tezacaftor/ivacaftor therapy
• Impact of CFTR modulation on disease manifestation or pathophysiology of extrapulmonary and extraintestinal organs (hepatobiliary tract, kidney, upper airways, nervous system)
• Assessment of cost-effectiveness
• The ethics of worldwide access to CFTR modulators
• Emergence of co-morbidities (e.g., obesity, cardiovascular disease)
Note to authors: Manuscripts will only be accepted for peer review if they adhere to the scope and requirements of the journal section.
Cystic fibrosis is a severe ion channel disease of autosomal recessive inheritance that is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. Current therapy is still mainly symptomatic, but meanwhile CFTR modulators have arrived to the clinic that target the basic defect in cystic fibrosis of impaired epithelial conductance for chloride and bicarbonate. There are two classes of CFTR modulators: Potentiators increase the activity of CFTR at the cell surface and correctors facilitate the translation, folding, maturation and trafficking of mutant CFTR to the cell surface and/or prevent its premature degradation. By 2019, the triple combination of the potentiator ivacaftor and the two correctors elexacaftor and tezacaftor became available for the treatment of the more than 90% of people with cystic fibrosis who harbour at least one CFTR allele that is responsive to this medication.
The phase 3 studies examined the clinical response to triple modulator therapy in cohorts with moderate lung disease. An increase of lung function, anthropometry and quality of life was observed that was qualified as a game changer of cystic fibrosis therapy. We are currently in the hot phase to learn the impact of CFTR modulation with elexacaftor/tezacaftor/ivacaftor on the pathophysiology, clinical manifestation, diagnostics and therapy of cystic fibrosis under real-world conditions. Frontiers in Pharmacology invites the cystic fibrosis community to share their real-world experience with their peers.
Authors are invited to submit Original Research Articles, Case Reports or timely MiniReviews that report on the real-world evidence of elexacaftor/tezacaftor/ivacaftor therapy in people with cystic fibrosis and the change of diagnostic or therapeutic modalities. Authors may choose any subject that they consider to be relevant for their peers. Emphasis on longitudinal observations would be appreciated. Major topics are:
• Sustainability of improvement of cystic fibrosis airway and/or intestinal disease (assessed by clinical investigation, imaging and/or functional assays)
• Sustainability of improvement of CFTR biomarkers
• Assessment of clinical efficacy in patients with rare CFTR mutation genotypes
• Adherence to modulator therapy and the symptomatic treatment programmes
• Adaptation of the symptomatic treatment programme (e.g., physiotherapy, nebulized therapies, supplementation of pancreatic enzymes, salt and vitamins) and clinical outcomes
• Pharmacokinetics, metabolism and drug-drug interactions
• Impact of triple therapy on airway and/or gut microbiology, inflammation and/or host defense
• Case reports on triple therapy in pregnant women, pre-schoolers, elderly above 50 years of age, individuals with end-stage lung disease or individuals with relative contraindications to prescribe triple therapy
• Adverse reactions and side effects of elexacaftor/tezacaftor/ivacaftor therapy
• Impact of CFTR modulation on disease manifestation or pathophysiology of extrapulmonary and extraintestinal organs (hepatobiliary tract, kidney, upper airways, nervous system)
• Assessment of cost-effectiveness
• The ethics of worldwide access to CFTR modulators
• Emergence of co-morbidities (e.g., obesity, cardiovascular disease)
Note to authors: Manuscripts will only be accepted for peer review if they adhere to the scope and requirements of the journal section.