Cystic fibrosis transmembrane conductance regulator
The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter-class ion channel encoded by the CFTR gene on human chromosome 7q31.2.
The cystic fibrosis transmembrane conductance regulator (CFTR) is an ATP-binding cassette (ABC) transporter-class ion channel encoded by the CFTR gene on human chromosome 7q31.2. The protein functions primarily as a regulated chloride and bicarbonate anion channel expressed at the apical surface of epithelial cells lining the airways, intestine, pancreatic ducts, sweat glands, and reproductive tract. CFTR channel gating is controlled by phosphorylation of its regulatory (R) domain and by ATP binding and hydrolysis at its two nucleotide-binding domains. When CFTR function is lost or severely diminished — due to any of more than 2,000 identified pathogenic variants in the CFTR gene — chloride transport across epithelial membranes is disrupted, leading to the accumulation of abnormally thick, dehydrated mucus and the multisystem disease known as cystic fibrosis (CF).
CF is one of the most common life-limiting autosomal recessive disorders in populations of Northern European descent, affecting the respiratory system most critically through cycles of mucus obstruction, bacterial infection, and progressive inflammation, while also causing pancreatic exocrine insufficiency, intestinal dysmotility, hepatobiliary disease, and male infertility. The severity and organ distribution of disease depend heavily on the specific class of CFTR mutation carried by an individual. Class I mutations result in absent or nonfunctional protein, often through premature termination or defective splicing; Class II mutations (most notably F508del, the most prevalent CF allele) cause misfolding and premature proteasomal degradation; Class III mutations impair channel gating; and Classes IV–VI affect conductance, expression levels, or protein stability. This mutation-class framework has become central to the development and clinical stratification of CFTR-targeting pharmacotherapies, broadly termed CFTR modulators.
Where the papers sit
12 papers from the last 6 months study cystic fibrosis transmembrane conductance regulator directly · updated from PubMed 12 Oct 2026
Study type 0 clinical trials · 4 observational · 3 human data · 4 preclinical · 1 unclassified
Themes 3 themes · 1 paradigm shift
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CFTR Gene Correction
Base editing and RNA rescue are being developed to correct otherwise untreatable CFTR variants in airway cells. Nanoparticle transfection, chemically modified tRNA, and optimized mRNA/sgRNA aim to improve nonviral delivery and functional rescue. Basal-cell transplantation adds a cell-replacement route, with multilineage differentiation and restored CFTR function in ex vivo airways. The shared endpoint is corrected epithelial chloride transport, but durable delivery and translation beyond ex vivo systems remain open.
4 papers · 33.3%
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Genotype-Guided CFTR Modulation
CFTR modulator treatment is moving toward genotype-guided selection and stronger correction of residual channel dysfunction. Elexacaftor/tezacaftor/ivacaftor shows genotype-dependent biochemical and clinical effects, including reduced systemic antibiotic use in children. Alyftrek components are being evaluated for high-potency rescue of F508del-CFTR, while electrochemical sensing seeks more direct measurement of chloride transport. The main open question is how functional assays and long-term real-world outcomes should guide individual treatment.
4 papers · 33.3%
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Long-Term CFTR Modulation
CFTR modulation is being assessed increasingly through early initiation, long-term outcomes, and treatment durability rather than short-term lung responses alone. Preschool treatment and comparisons of ivacaftor- and lumacaftor-based regimens focus on slowing disease progression over time. Long-acting potentiators aim to reduce treatment burden, while vaccine coverage remains an important parallel component of respiratory prevention. The cluster shares a clinical emphasis on sustained benefit, but the optimal regimen and durability of protection remain unresolved.
4 papers · 33.3%
Genetic and RNA-based repair can replace pharmacological CFTR modulation for otherwise inaccessible mutations
The chemically modified suppressor-tRNA study in nonsense-mutation models and the ABE9 base-editing study of the 1717-1G>A splicing mutation (PMIDs 42658930, 42018671) challenge the assumption that restoring CFTR function principally requires drugs acting on the mutant channel. Instead, they independently restored CFTR expression or function by repairing the genetic message or the underlying DNA defect, including in patient-derived organoids and airway models; the editing study specifically addressed a mutation without an approved pharmacological treatment. This shifts the therapeutic direction toward mutation-specific RNA and genome repair when channel modulation is unavailable or insufficient.
Papers
The 12 papers from the last 6 months that study cystic fibrosis transmembrane conductance regulator directly, newest first, by theme and by study type. Study types come from PubMed publication types and MeSH headings.
By theme
CFTR Gene Correction (4)
- Nonviral delivery of chemically modified tRNA rescues nonsense mutations in cystic fibrosis. Science (New York, N.Y.) · 27 Aug 2026 PMID 42658930
- Basal cell transplantation supports multilineage differentiation and restores CFTR function in ex vivo ferret airways. JCI insight · 18 Aug 2026 PMID 42611556
- Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis. JCI insight · 8 May 2026 PMID 42100873
- Functional correction of the untreatable CFTR 1717-1G>A mutation through mRNA- and sgRNA-optimized base editing. Science translational medicine · 22 Apr 2026 PMID 42018671
Genotype-Guided CFTR Modulation (4)
- Functional and biochemical characterization of Alyftrek components reveals high-potency rescue of F508del-CFTR. American journal of physiology. Lung cellular and molecular physiology · 19 Aug 2026 PMID 42616613
- Impact of Elexacaftor/Tezacaftor/Ivacaftor on Systemic Antibiotic Utilization in Pediatric Patients With Cystic Fibrosis. Pediatric pulmonology · 28 Jul 2026 PMID 42517727
- Toward Precision Electrochemical Sensing of CFTR Function in Cystic Fibrosis Models. Analytical chemistry · 4 Jun 2026 PMID 42240701
- Genotype-dependent biochemical response to elexacaftor/tezacaftor/ivacaftor in children with cystic fibrosis: A 24-month real-world study. Respiratory medicine · 1 May 2026 PMID 42067070
Long-Term CFTR Modulation (4)
- Early CFTR modulation and clinical outcomes in preschool cystic fibrosis. Pediatric research · 2 Sept 2026 PMID 42680797
- Suboptimal vaccine coverage for preventable respiratory infections in children with cystic fibrosis in the Cystic Fibrosis Regional Reference Centre of Tuscany: Need for improving preventive strategies. Human vaccines & immunotherapeutics · 29 Jun 2026 PMID 42373575
- Comparison of Long Term Effects of Treatment of Different CFTR Modulators in People With Cystic Fibrosis. Pediatric pulmonology · 28 May 2026 PMID 42206906
- Targeting the Protein-Membrane Interface Enables Design of Long-Acting CFTR Potentiators. ACS chemical biology · 28 Apr 2026 PMID 42046515
By study type
Observational studies and case reports (4)
- Impact of Elexacaftor/Tezacaftor/Ivacaftor on Systemic Antibiotic Utilization in Pediatric Patients With Cystic Fibrosis. Pediatric pulmonology · 28 Jul 2026 PMID 42517727
- Suboptimal vaccine coverage for preventable respiratory infections in children with cystic fibrosis in the Cystic Fibrosis Regional Reference Centre of Tuscany: Need for improving preventive strategies. Human vaccines & immunotherapeutics · 29 Jun 2026 PMID 42373575
- Comparison of Long Term Effects of Treatment of Different CFTR Modulators in People With Cystic Fibrosis. Pediatric pulmonology · 28 May 2026 PMID 42206906
- Genotype-dependent biochemical response to elexacaftor/tezacaftor/ivacaftor in children with cystic fibrosis: A 24-month real-world study. Respiratory medicine · 1 May 2026 PMID 42067070
Human data, design not indexed (3)
- Functional and biochemical characterization of Alyftrek components reveals high-potency rescue of F508del-CFTR. American journal of physiology. Lung cellular and molecular physiology · 19 Aug 2026 PMID 42616613
- Toward Precision Electrochemical Sensing of CFTR Function in Cystic Fibrosis Models. Analytical chemistry · 4 Jun 2026 PMID 42240701
- Targeting the Protein-Membrane Interface Enables Design of Long-Acting CFTR Potentiators. ACS chemical biology · 28 Apr 2026 PMID 42046515
Preclinical: animal, cell and lab studies (4)
- Nonviral delivery of chemically modified tRNA rescues nonsense mutations in cystic fibrosis. Science (New York, N.Y.) · 27 Aug 2026 PMID 42658930
- Basal cell transplantation supports multilineage differentiation and restores CFTR function in ex vivo ferret airways. JCI insight · 18 Aug 2026 PMID 42611556
- Base editing and nanoparticle transfection of airway cell types essential for treatment of cystic fibrosis. JCI insight · 8 May 2026 PMID 42100873
- Functional correction of the untreatable CFTR 1717-1G>A mutation through mRNA- and sgRNA-optimized base editing. Science translational medicine · 22 Apr 2026 PMID 42018671
Unclassified: not yet indexed with MeSH (1)
- Early CFTR modulation and clinical outcomes in preschool cystic fibrosis. Pediatric research · 2 Sept 2026 PMID 42680797
Written from 12 PubMed abstracts, each one listed by PMID above. Published: 2026-06-15. Last written: 2026-08-29 by GPT. Corrections: 2026-09-26 by GPT. Drafted by language models from published abstracts; not medical advice.