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Open research questions in Cystic Fibrosis Research Advances

644 gap statements mined from Cystic Fibrosis Research Advances papers in our 7.9M-paper local library, which holds 3,960 papers on the topic — drawn mostly from each paper's own stated research gap, future-work, challenge and limitation notes, and its abstract. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one.

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What the literature leaves open

  • There is a need for effective treatments that address the underlying cause of cystic fibrosis. Current therapies have limited efficacy, and new approaches are required. Nucleic acid-based therapies have shown promise, but their effectiveness needs to be evaluated.

    Nucleic acid-based therapies for people with cystic fibrosis · 2026 · DOI

  • Although early observations appear reassuring, there is an association with prenatal modulator use and cataract formation, and long-term child health outcomes remain unknown (16). While the impact of CFTR modulators on fertility is clear, there is limited literature documenting whether and how patient perspectives on SRH in the modulator era have evolved.

    Assessing the need for reproductive genetic counseling among adults with cystic fibrosis · 2026 · DOI

  • These findings indicate a substantial burden of undernutrition in the studied cohort, although direct comparison with population-level Palestinian CF data is limited by the absence of comparable registry data.

    Nutritional Status and Caregiver Knowledge in Pediatric Cystic Fibrosis Management · 2026 · DOI

  • Despite these limitations, our study contributes to the limited literature evaluating mental health and QoL in both pediatric patients with CF and their parents in the context of CFTR modulator therapy.

    Early effect of CFTR modulators on the mental health of patients with cystic fibrosis and parents · 2026 · DOI

  • While eosinophilic airway inflammation is an established treatable trait in adult bronchiectasis, associated with a reduction in exacerbations when treated with inhaled corticosteroids, whether it represents a clinically relevant target in children remains to be determined. However, paediatric data remain lacking, and no study has previously quantified this implementation gap in children with bronchiectasis.

    Treatable traits in paediatric bronchiectasis: current practice and a proposed checklist · 2026 · DOI

  • A universally accepted and prospectively validated definition of PEx is still lacking, and uncertainties persist regarding optimal antibiotic strategies, predictors of incomplete lung function recovery, and the role of anti-inflammatory and targeted therapies in both acute management and prevention.

    Pulmonary exacerbations in primary ciliary dyskinesia · 2026 · DOI

  • This dissociation suggests that early peripheral muscular impairment may precede detectable limitations in functional exercise performance. These findings provide a clinically relevant framework indicating that assessments of exercise capacity and muscle oxygen metabolism should not be restricted to patients with advanced disease severity.

    Peripheral muscle oxygenation during upper extremity functional exercise and balance in pediatric patients with cystic fibrosis: a cross-sectional study · 2026 · DOI

  • Whilst GE signatures associated with exacerbation risk are reported in chronic adult airway diseases, including in sputum samples from adults with bronchiectasis, these have not been investigated previously in paediatric bronchiectasis.

    Neutrophil-related gene expression profile is associated with future paediatric bronchiectasis exacerbations · 2026 · DOI

  • However, secretory cell and ionocyte populations were not specifically quantified in the present study, and their potential contribution to reduced CFTR function remains to be determined.

    Assessment of CFTR Dysfunction and Responsiveness to CFTR Modulators in COPD Bronchial Air–Liquid Interface Cultures · 2026 · DOI

  • Our cohort was enriched with probands harbouring PCD gene-panel-identified heterozygous pathogenic or likely pathogenic variants in HYDIN, but lacking evidence of another biallelic for a definitive molecular diagnosis.

    RNA sequencing significantly improves HYDIN diagnosis and defines the effects of common deletions in primary ciliary dyskinesia · 2026 · DOI

  • The genetic investigation was limited to the analysis of the c. 286C>T variant in the present case does not exclude a genetic etiology, as mutations in other PCD-associated genes may be involved and the genetic basis of canine PCD remains incompletely characterized.

    Primary Ciliary Dyskinesia with Secondary Pseudomonas aeruginosa Infection in a Dog: Endoscopic and Diagnostic Findings · 2026 · DOI

  • In addition, pharmacokinetic and therapeutic drug monitoring data during pregnancy are sparse, making it difficult to accurately assess their potential effects on the fetus and neonates. Evidence remains limited and is derived largely from retrospective registry studies, small observational cohorts and isolated case reports, introducing risks of publication bias and incomplete outcome reporting.

    Maternal and fetal outcomes associated with CFTR modulator use during pregnancy: a scoping review · 2026 · DOI

  • However, the genetic spectrum and classification of variants in isolated congenital absence of the vas deferens (iCAVD), as well as the risk of CFTR variant carriage in affected couples, remain incompletely understood.

    Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients With Isolated CAVD: A Large Cohort Study and Risk Assessment of CFTR Variant Carriage in Couples · 2026 · DOI

  • Further research into the molecular pathways linking CF and LC, along with the development of innovative clinical approaches, is essential to improve outcomes for CF patients. Early detection, close monitoring, and targeted therapies focusing on inflammation, microbial dysbiosis, and oxidative stress, could significantly decrease the risk of LC in this population.

    Mechanisms of Lung Cancer Development in Cystic Fibrosis Patients: The Role of Inflammation, Oxidative Stress, and Lung Microbiome Dysbiosis · 2025 · DOI

  • While Aspergillus needs to be present for the type 2 inflammatory response to occur that leads to ABPA, Aspergillus colonisation is not one of the major international consensus diagnostic criteria for ABPA, due to a cited lack of evidence of specificity, particularly in asthma.

    Longitudinal Study on Clinical Predictors for Allergic Bronchopulmonary Aspergillosis in Children and Young People with Cystic Fibrosis Highlights the Impact of Infection with Aspergillus and Pseudomonas and Ivacaftor Treatment · 2025 · DOI

  • The composition of airway surface liquid in different pulmonary diseases is not well characterized. There is a lack of information on how to design host-mimicking media to study microbial infections in these environments.

    How Does Airway Surface Liquid Composition Vary in Different Pulmonary Diseases, and How Can We Use This Knowledge to Model Microbial Infections? · 2024 · DOI

  • Introduction Among the limited studies on physical exercise interventions in adults with cystic fibrosis (CF), few have specifically addressed the improvement of peripheral muscle strength and body fat‐free mass.

    Effects of a remotely supervised resistance training program on muscle strength and body composition in adults with cystic fibrosis: Randomized controlled trial · 2024 · DOI

  • Future research should focus on the development of standardized methodologies, larger multicenter studies, and longitudinal designs capable of clarifying causal pathways between cystic fibrosis and oral health outcomes.

    Cystic fibrosis and its impact on the oral cavity and dental treatments – a scoping review · 2026 · DOI

  • Triple modulator therapy has made a positive impact on CRS symptoms and imaging in CF, but little is known regarding its relation to revision FESS.

    Revision Endoscopic Sinus Surgery in Cystic Fibrosis With Chronic Rhinosinusitis: Before and After Cystic Fibrosis Transmembrane Conductance Regulator Triple Modulator Therapy · 2026 · DOI

  • Because no control group was included, the specificity and positive and negative predictive values of these radiological features remain unknown.

    Chest X-Ray Features in 130 Patients with Bronchiectasis · 2024 · DOI

  • These findings pointed out that type 2-skewed endotypes may be substantially under-recognized when dependent solely on peripheral eosinophil counts for phenotypic classification.

    High Serum IgE is Associated with Risk of Severe Exacerbations Among Non-Eosinophilic Bronchiectasis · 2026 · DOI

  • These findings underscored the importance of CFTR in enamel maturation and support further investigation into ANO1- targeted therapies not only for respiratory outcomes, but also for oral health preservation in CF patients with Class I mutations.

    Ano1 Antisense Therapy Improves Enamel Properties in Molars but not Amelogenesis in a Murine Model of Cystic Fibrosis · 2026 · DOI

  • A systematic review summarizing drug pharmacokinetics over a 20-year period…

    Evaluation of Complex Drug Interactions Between Elexacaftor-Tezacaftor-Ivacaftor and Statins Using Physiologically Based Pharmacokinetic Modeling · 2025 · DOI

  • Researchers should investigate the components of human ASL and how different lung pathologies affect ASL composition, - Further studies are needed to design a host-mimicking medium for different respiratory environments, - Research should focus on understanding how the components of an ASL-mimicking medium interact with each…

    How Does Airway Surface Liquid Composition Vary in Different Pulmonary Diseases, and How Can We Use This Knowledge to Model Microbial Infections? · 2024 · DOI

  • Airway Surface Liquid pH Regulation in Airway Epithelium Current Understandings and Gaps in Knowledge. Inflammation biomarkers in sputum for clinical trials in cystic fibrosis: Current understanding and gaps in knowledge.

    Mucus Structure, Viscoelastic Properties, and Composition in Chronic Respiratory Diseases · 2024 · DOI

Most-cited papers in Cystic Fibrosis Research Advances

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Open questions raised by papers listed on this page include: (1) There is a need for effective treatments that address the underlying cause of cystic fibrosis (“Nucleic acid-based therapies for people with cystic fibrosis”, 2026); (2) While the impact of CFTR modulators on fertility is clear, there is limited literature documenting whether and how patient perspectives on SRH in the modulator era have evolved (“Assessing the need for reproductive genetic counseling among adults with cystic…”, 2026); (3) Paediatric data remain lacking, and no study has previously quantified this implementation gap in children with bronchiectasis (“Treatable traits in paediatric bronchiectasis: current practice and a proposed…”, 2026); (4) Whilst GE signatures associated with exacerbation risk are reported in chronic adult airway diseases, including in sputum samples from adults with bronchiectasis, these have not been investigated previously in paediatric bronchiectasis (“Neutrophil-related gene expression profile is associated with future paediatric…”, 2026); (5) The genetic spectrum and classification of variants in isolated congenital absence of the vas deferens (iCAVD), as well as the risk of CFTR variant carriage in affected couples, remain incompletely understood (“Spectrum and Classification of CFTR and ADGRG2 Variants in Chinese Patients…”, 2026). 644 gap statements have been mined from Cystic Fibrosis Research Advances papers in our 7.9M-paper local library, which holds 3,960 papers on the topic; the gaps come from whichever of those papers state one. They are mostly the research gaps the authors state and the papers' abstracts, plus future-work, limitations and challenges passages. The ones listed below are a selection still marked open; each names the study that raised it, with a DOI link where the paper has one, so you can read the original claim in context.

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