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Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments
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Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Respiratory Medicine".

Deadline for manuscript submissions: 25 November 2025 | Viewed by 3159

Special Issue Editors

Dr. Michal Gur

E-Mail Website
Guest Editor
1. Pediatric Pulmonary Institute, CF Center, Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, Israel
2. Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa 3109601, Israel
Interests: cystic fibrosis; lung diseases; pediatric pulmonology
Prof. Dr. Lea Bentur

E-Mail Website1 Website2
Guest Editor
1. Pediatric Pulmonary Institute, CF Center, Rappaport Children’s Hospital, Rambam Health Care Campus, Haifa 3109601, Israel
2. Rappaport Faculty of Medicine, Technion—Israel Institute of Technology, Haifa 3109601, Israel
Interests: pediatric respirology; pediatric pulmonology; cystic fibrosis
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is the most common fatal genetic disease in Caucasians, with over 2000 known mutations in the gene encoding for the cystic fibrosis transmembrane conductance regulator (CFTR).

The introduction of CFTR modulators (CFTRm), approved by the FDA in 2019, has revolutionized the lives of CF patients, with improved pulmonary functions, nutritional status, and quality of life. However, a challenging group of patients remains those who are not eligible for CFTRm (especially patients with severe stop mutations, which are more prevalent in certain populations).

We are launching a Special Issue entitled “Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments”. The aim of this subject is to highlight the diagnosis and treatment of CF in the era of CFTRm—methods to obtain sputum cultures in patients who do not expectorate sputum after the initiation of CFTRm; effects of CFTRm that have not been studied so far; novel therapies for those ineligible to CFTRm—gene therapy, mRNA therapy; and the diagnosis and treatment of challenging bacteria (such as non-tuberculous mycobacteria—NTM) in patients with and without CFTRm.

These topics will help more deeply understand the new face of CF diagnosis and treatments—major advances in the field versus the challenges that remain.

Dr. Michal Gur
Prof. Dr. Lea Bentur
Guest Editors

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Keywords

  • cystic fibrosis
  • CFTR modulators
  • stop mutations
  • gene therapy
  • mRNA therapy
  • novel therapies
  • rare pathogens

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Published Papers (5 papers)

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Research

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14 pages, 1494 KiB  
Article
Reported Adverse Events in Patients with CF Receiving Treatment with Elexacaftor/Tezacaftor/Ivacaftor: 5 Years Observational Study
by Francesca Lucca, Ilaria Meneghelli, Gloria Tridello, Francesca Buniotto, Giulia Cucchetto, Sonia Volpi, Emily Pintani, Valentino Bezzerri and Marco Cipolli
J. Clin. Med. 2025, 14(12), 4335; https://doi.org/10.3390/jcm14124335 - 18 Jun 2025
Viewed by 349
Abstract
Background: Elexacaftor/tezacaftor/ivacaftor (ETI) treatment is showing remarkable beneficial effects in people with Cystic Fibrosis (pwCF) harboring the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Although this therapy is generally well tolerated in pwCF, some adverse events (AEs) [...] Read more.
Background: Elexacaftor/tezacaftor/ivacaftor (ETI) treatment is showing remarkable beneficial effects in people with Cystic Fibrosis (pwCF) harboring the F508del mutation in the Cystic Fibrosis Transmembrane conductance Regulator (CFTR) gene. Although this therapy is generally well tolerated in pwCF, some adverse events (AEs) have been recently described both in controlled studies and in post-marketing observations. Methods: We followed 414 pwCF carrying F508del CFTR that initiated ETI treatment, recording AEs for a period of 5 years. Results: A total of 142 AEs were reported. The most frequent AEs in the whole cohort were liver marker elevation, skin rush, epigastric pain, headache, and depression. Considering pediatric subjects, psychiatric and gastrointestinal disorders were the most frequent AEs. Only one patient reported a severe AE, leading to treatment discontinuation. In case of AEs, different decisions on ETI treatment were made, including temporary interruption and temporary or permanent dosage modification. Conclusions: Throughout the long-term observational period, almost 21% of pwCF experienced at least one AE. Psychiatric disorders, in particular attention deficit, were the most prevalent issue in our pediatric cohort, whereas adult patients mainly reported depression, anxiety and sleep disorders. This study therefore strengthen the recommendation of screening for changes in mental health during ETI treatment. AEs led to the permanent reduction of ETI dosage in 32% of cases, raising the issue of safety in relation to dosage reduction, efficacy, and minimum ETI levels. Eventually, this study highlights the need for a longitudinal monitoring of ETI safety since a significant number of AEs occurred after one year of treatment. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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9 pages, 1072 KiB  
Article
Elevated Immunoglobulin G as a Predictor of Progression to Severe Lung Disease in Cystic Fibrosis: A Longitudinal Cohort Study
by Ori Goldberg, Siwar Shekh-Yusuf, Miri Dotan, Moshe Heching, Eyal Jacobi, Meir Mei-Zahav, Hannah Blau, Huda Mussaffi and Dario Prais
J. Clin. Med. 2025, 14(12), 4331; https://doi.org/10.3390/jcm14124331 - 18 Jun 2025
Viewed by 271
Abstract
Background: Elevated immunoglobulin G (IgG) levels are associated with worse lung function and disease severity in people with cystic fibrosis (PwCF). This study evaluated whether elevated IgG levels—defined as values above the 97.5th percentile (Z-score ≥ 1.96 standard deviations above the mean)—can predict [...] Read more.
Background: Elevated immunoglobulin G (IgG) levels are associated with worse lung function and disease severity in people with cystic fibrosis (PwCF). This study evaluated whether elevated IgG levels—defined as values above the 97.5th percentile (Z-score ≥ 1.96 standard deviations above the mean)—can predict progression to severe lung disease. Methods: A retrospective cohort study of children and adults with CF at a single-center clinic was performed. Patients with elevated baseline IgG Z-scores were compared to those with normal or low IgG levels. Progression to severe lung disease was defined as % predicted FEV1 < 40%, referral for lung transplantation, or death. Kaplan–Meier survival curves and Cox models were used to analyze clinical outcomes. A sensitivity analysis was conducted for patients aged 18 years or older. Results: Of 97 patients, 31 (31.9%) had elevated IgG levels. Progression to severe lung disease occurred in 14 (14.4%) patients, 12 (85.7%) of whom had elevated IgG. These patients were significantly older and had a higher prevalence of Pseudomonas aeruginosa colonization. Among adults, those with elevated IgG had lower baseline % predicted FEV1 and greater annual lung function decline. Elevated IgG was independently associated with progression to severe lung disease (adjusted hazard ratio [aHR]: 9.8; 95% CI: 1.9–48.6), even after adjusting for Pseudomonas colonization and annual % predicted FEV1 decline. Conclusions: Elevated IgG was associated with progression to severe lung disease in PwCF and correlated with older age, Pseudomonas colonization, and—in adults—lower baseline lung function and faster decline. These findings highlight elevated serum IgG as a meaningful prognostic biomarker for identifying high-risk PwCF who may benefit from closer monitoring and earlier intervention. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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10 pages, 863 KiB  
Article
The Association of Achromobacter xylosoxidans Airway Infection with Disease Severity in Cystic Fibrosis
by Ophir Bar-On, Meir Mei-Zahav, Hagit Levine, Huda Mussaffi, Hannah Blau, Haim Ben Zvi, Dario Prais and Patrick Stafler
J. Clin. Med. 2025, 14(7), 2437; https://doi.org/10.3390/jcm14072437 - 3 Apr 2025
Viewed by 460
Abstract
Background/Objectives: The prevalence of Achromobacter xylosoxidans is increasing in people with Cystic Fibrosis (pwCF), yet its clinical pathogenicity remains controversial. The objective of this study was to chart the longitudinal prevalence and examine clinical associations before and after infection. Methods: This [...] Read more.
Background/Objectives: The prevalence of Achromobacter xylosoxidans is increasing in people with Cystic Fibrosis (pwCF), yet its clinical pathogenicity remains controversial. The objective of this study was to chart the longitudinal prevalence and examine clinical associations before and after infection. Methods: This observational, retrospective study was conducted at a single CF center over a 14-year period. Data were collated from patient charts and clinic databases. Patients with Achromobacter sputum cultures were compared to those without the bacterium and analyzed according to whether they had single, intermittent, or chronic infections. Results: During the study period, an annual average of 124 pwCF were followed up at our clinic, with a median age of 13.6 years (IQR = 7.6–27.7). The Achromobacter detection rate increased from 0 to 6.1%. Twenty-three percent (29/124) of patients had at least one positive culture. The median age at acquisition was 17 years (IQR = 14.5–33). At the time of acquisition, the median FEV1 was 81% (IQR = 46–94), compared to 90% (IQR = 72–99) for patients without Achromobacter, p < 0.001. Patients with Achromobacter tended to demonstrate more chronic Pseudomonas (55% vs. 27%, p = 0.06) and pancreatic insufficiency (66% vs. 47%, p = 0.07). At two years post-acquisition, the median FEV1 for patients with intermittent and chronically infected decreased by 11.5% (IQR = −3.75–7.5), compared to 1.5% (IQR = −2.5–12.5) for those with a single positive culture, p = 0.03. Similarly, pulmonary exacerbations per year became more frequent post-acquisition in intermittent and chronically infected patients: Median (range) 2.5 (0–8) pre-, versus 3.0 (0–9) post-acquisition, p = 0.036. Conclusions: Chronic and intermittent infection with Achromobacter were associated with accelerated lung function decline and increased exacerbation frequency. Larger prospective studies are needed to confirm these findings and examine the effect of eradication on the clinical course. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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10 pages, 508 KiB  
Article
A Novel Medical Device for Airway Clearance
by Nir Helper, Moshe Ashkenazi, Gil Sokol, Adi Dagan and Ori Efrati
J. Clin. Med. 2025, 14(3), 907; https://doi.org/10.3390/jcm14030907 - 30 Jan 2025
Viewed by 1085
Abstract
Background: Airway clearance techniques are a key element in the daily treatment of people with bronchiectasis. There are several methods and devices to assist in effective airway clearance. We investigated LibAirty, a novel medical device, and compared it with the common practice [...] Read more.
Background: Airway clearance techniques are a key element in the daily treatment of people with bronchiectasis. There are several methods and devices to assist in effective airway clearance. We investigated LibAirty, a novel medical device, and compared it with the common practice performed today. Methods: Twenty adults enrolled, and each one had three different treatments in a randomized order: a human respiratory physiotherapist, a High-Frequency Chest Wall Oscillator, and LibAirty with BiPAP. The outcome parameters were mucus weight and a questionnaire. Further studies were performed to investigate LibAirty with hypertonic saline (HS) inhalation and using the device as a standalone. Results: No adverse events were recorded. The sputum amount expectorated in all arms using LibAirty was 14.4 ± 11.1 g with BIPAP, 16.4 ± 7 g with HS, and 11.3 ± 4.1 g for the standalone treatment. For HFCWO, 4.45 ± 3.28 g was obtained, and for CPT, 15.9 ± 11.1 g was obtained. The amount obtained by LibAirty (all arms) was significantly higher than HFCWO. Conclusions: All arms of LibAirty were superior to HFCWO and similar to the human physiotherapist. Further studies should be performed to investigate the long-term effects of LibAirty. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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Review

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17 pages, 842 KiB  
Review
Insights on the Pathogenesis of Mycobacterium abscessus Infection in Patients with Cystic Fibrosis
by Mai Basher, Michal Gur and Michal Meir
J. Clin. Med. 2025, 14(10), 3492; https://doi.org/10.3390/jcm14103492 - 16 May 2025
Viewed by 515
Abstract
People with CF (pwCF) have a significant risk for pulmonary infections with non-tuberculous mycobacteria (NTM), particularly Mycobacterium abscessus (Mab). Mab is an emerging pathogen, which causes pulmonary infections in patients with chronic lung diseases, particularly CF; Mab pulmonary disease leads to progressive pulmonary [...] Read more.
People with CF (pwCF) have a significant risk for pulmonary infections with non-tuberculous mycobacteria (NTM), particularly Mycobacterium abscessus (Mab). Mab is an emerging pathogen, which causes pulmonary infections in patients with chronic lung diseases, particularly CF; Mab pulmonary disease leads to progressive pulmonary dysfunction and increased morbidity and mortality. Despite advances in CF care, including CFTR modulators (CFTRm), Mab continues to pose a therapeutic challenge, with significant long-term medical burden. This review provides insights into the complex host–pathogen interplay of Mab infections in pwCF. It provides a detailed overview of Mab bacterial virulence factors, including biofilm formation, secretion systems, the virulence-associated rough morphotype, and antibiotic resistance mechanisms. This review also summarizes features conferring susceptibility of the CF host to Mab infections, alongside the contribution of the CF-host environment to the pathogenesis of Mab infection, such as antibiotic-derived microbial selection, within-host mycobacterial evolution, and interactions with co-pathogens such as Pseudomonas aeruginosa (PA). Finally, the therapeutic implications and novel treatments for Mab are discussed, considering the complex host–pathogen interplay. Full article
(This article belongs to the Special Issue Cystic Fibrosis: Novel Strategies of Diagnosis and Treatments)
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