ArticleJournal of cystic fibrosis : official journal of the European Cystic Fibrosis Society2020
Whole-blood transcriptomic responses to lumacaftor/ivacaftor therapy in cystic fibrosis.
Article in Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
44 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Integrative genomic meta-analysis reveals novel molecular insights into cystic fibrosis and ΔF508-CFTR rescue.Scientific reports · 2020Pooled it
- Anti-inflammatory and phosphorylation effects of CFTR modulator triple therapy in cystic fibrosis.iScience · 2026Article
- Genetic and chemical correction of cystic fibrosis reduces airway susceptibility to SARS-CoV-2.American journal of physiology. Lung cellular and molecular physiology · 2026Article
- Human iPSC-derived macrophages for studying intrinsic and extrinsic factors in cystic fibrosis.EXO : beyond the cell · 2026Article
- Elexacaftor/Tezacaftor/Ivacaftor in Children with Cystic Fibrosis: No Longer "If" but a Question of "When" to Start.American journal of respiratory and critical care medicine · 2025Article
- Effect of elexacaftor/tezacaftor/ivacaftor on systemic inflammation in cystic fibrosis.Thorax · 2025Article
- ENaC contributes to macrophage dysfunction in cystic fibrosis.American journal of physiology. Lung cellular and molecular physiology · 2025Article
- Recent developments in cystic fibrosis drug discovery: where are we today?Expert opinion on drug discovery · 2025Review
- Circular RNA Identification and Characterization with CircRNAFlow: A Bioinformatics Approach.Advances in experimental medicine and biology · 2025Article
- Proteomics profiling of inflammatory responses to elexacaftor/tezacaftor/ivacaftor in cystic fibrosis.Frontiers in immunology · 2025Article
- Inflammatory response in CF airway epithelial cells: a comparative study of modulators and wild-type CFTR rescue.Frontiers in pharmacology · 2025Article
- Isolating high-quality RNA for RNA-Seq from 10-year-old blood samples.Scientific reports · 2024Article
- Nasal Epithelium Transcriptomics Predict Clinical Response to Elexacaftor/Tezacaftor/Ivacaftor.American journal of respiratory cell and molecular biology · 2024Article
- Gene expression responses of CF airway epithelial cells exposed to elexacaftor/tezacaftor/ivacaftor suggest benefits beyond improved CFTR channel function.American journal of physiology. Lung cellular and molecular physiology · 2024Article
- IL-22Ra2 Levels Remain Elevated in People with Cystic Fibrosis despite Modulator Therapy.American journal of respiratory and critical care medicine · 2024Article
- Quantitative and Longitudinal Assessment of Systemic Innate Immunity in Health and Disease Using a 2D Gene Model.Biomedicines · 2024Article
- Recommended Tool Compounds for Modifying the Cystic Fibrosis Transmembrane Conductance Regulator Channel Variants.ACS pharmacology & translational science · 2024Review
- Donor white blood cell differential is the single largest determinant of whole blood gene expression patterns.Genomics · 2023Article
- Modulation of Plasmatic Matrix Metalloprotease 9: A Promising New Tool for Understanding the Variable Clinical Responses of Patients with Cystic Fibrosis to Cystic Fibrosis Transmembrane Conductance Regulator Modulators.International journal of molecular sciences · 2023Article
- Discovery of dysregulated circular RNAs in whole blood transcriptomes from cystic fibrosis patients - implication of a role for cellular senescence in cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2023Article
Corrections and comments
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Authors and funding
13 authors at 1 institution in 1 country.
Funding
Abstract
backgroundCystic fibrosis (CF) remains without a definitive cure. Novel therapeutics targeting the causative defect in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are in clinical use. Lumacaftor/ivacaftor is a CFTR modulator approved for patients homozygous for the CFTR variant p.Phe508del, but there are wide variations in treatment responses preventing prediction of patient responses. We aimed to determine changes in gene expression related to treatment initiation and response.
methodsWhole-blood transcriptomics was performed using RNA-Seq in 20 patients with CF pre- and 6 months post-lumacaftor/ivacaftor (drug) initiation and 20 non-CF healthy controls. Correlation of gene expression with clinical variables was performed by stratification via clinical responses.
resultsWe identified 491 genes that were differentially expressed in CF patients (pre-drug) compared with non-CF controls and 36 genes when comparing pre-drug to post-drug profiles. Both pre- and post-drug CF profiles were associated with marked overexpression of inflammation-related genes and apoptosis genes, and significant under-expression of T cell and NK cell-related genes compared to non-CF. CF patients post-drug demonstrated normalized protein synthesis expression, and decreased expression of cell-death genes compared to pre-drug profiles, irrespective of clinical response. However, CF clinical responders demonstrated changes in eIF2 signaling, oxidative phosphorylation, IL-17 signaling, and mitochondrial function compared to non-responders. Top overexpressed genes (MMP9 and SOCS3) that decreased post-drug were validated by qRT-PCR. Functional assays demonstrated that CF monocytes normalized calcium (increases MMP9 expression) concentrations post-drug.
conclusionsTranscriptomics revealed differentially regulated pathways in CF patients at baseline compared to non-CF, and in clinical responders to lumacaftor/ivacaftor.
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Registered trials
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