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Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators

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

Deadline for manuscript submissions: closed (31 December 2020) | Viewed by 29160

Special Issue Editor

Prof. Dr. Bradley S. Quon

E-Mail Website
Guest Editor
Department of Medicine, University of British Columbia, Vancouver, BC V6Z1Y6, Canada
Interests: cystic fibrosis; epidemiology; biomarkers; clinical trials

Special Issue Information

Dear Colleagues,

Cystic fibrosis (CF) is the most common fatal inherited disease. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause dysfunction of the CFTR protein. Small molecule therapies capable of enhancing CFTR protein function, referred to as CFTR modulators, have been in clinical use since 2012 and have already made a tremendous impact on clinical care and health outcomes. With the recent approval of Trikafta™, about 90% of the CF population are now eligible for highly effective CFTR modulators and this is expected to further transform health outcomes for people living with CF. In this Special Issue, we would like to invite original research articles and state-of-the-art reviews focused on the clinical effectiveness and safety of CFTR modulators, particularly in patient sub-groups that might have been excluded from the clinical trials that led to market approval. We are also interested in studies and reviews evaluating: novel biomarkers of treatment response to CFTR modulators; extra-pulmonary effects of CFTR modulators; and the impact of CFTR modulators on treatment burden, quality of life, and work productivity. Lastly, we invite international perspectives on the challenges associated with accessing CFTR modulators, and the future of CF care and research with more widespread use of CFTR modulators.

Prof. Dr. Bradley S. Quon
Guest Editor

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Keywords

  • cystic fibrosis
  • CFTR modulators
  • precision medicine
  • biomarkers
  • effectiveness
  • safety

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Published Papers (6 papers)

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Research

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14 pages, 874 KiB  
Article
Increased Fecal Calprotectin Is Associated with Worse Gastrointestinal Symptoms and Quality of Life Scores in Children with Cystic Fibrosis
by Fabien Beaufils, Emmanuel Mas, Marie Mittaine, Martin Addra, Michael Fayon, Laurence Delhaes, Haude Clouzeau, François Galode, Thierry Lamireau, Stéphanie Bui and Raphaël Enaud
J. Clin. Med. 2020, 9(12), 4080; https://doi.org/10.3390/jcm9124080 - 17 Dec 2020
Cited by 17 | Viewed by 2809
Abstract
In cystic fibrosis (CF), cystic fibrosis transmembrane regulator (CFTR) dysfunction leads to digestive disorders that promote intestinal inflammation and dysbiosis enhancing gastrointestinal symptoms. In pancreatic insufficiency CF patients, both intestinal inflammation and dysbiosis, are associated with an increase in the fecal calprotectin (FC) [...] Read more.
In cystic fibrosis (CF), cystic fibrosis transmembrane regulator (CFTR) dysfunction leads to digestive disorders that promote intestinal inflammation and dysbiosis enhancing gastrointestinal symptoms. In pancreatic insufficiency CF patients, both intestinal inflammation and dysbiosis, are associated with an increase in the fecal calprotectin (FC) level. However, associations between the FC level, gastrointestinal symptoms, and quality of life (QoL) remain poorly studied. We aimed to assess such associations in pancreatic insufficiency CF children. The FC level was measured in pancreatic insufficiency CF children’s stool samples. Children and their parents completed two questionnaires: The Gastrointestinal Symptoms Scales 3.0-PedsQLTM and the Quality of Life Pediatric Inventory 4.0-PedsQLTM. Lower scores indicated worse symptomatology or QoL. Thirty-seven CF children were included. A FC level above 250 µg/g was associated with worse gastrointestinal symptoms and QoL scores. The FC level was inversely correlated with several gastrointestinal scores assessed by children (i.e., Total, “Heart Burn Reflux”, “Nausea and Vomiting”, and “Gas and Bloating”). Several QoL scores were correlated with gastrointestinal scores. The FC level was weakly associated with clinical parameters. Some gastrointestinal and QoL scores were related to disease severity associated parameters. In CF, the FC level, biomarker previously related to intestinal inflammation and dysbiosis, was associated with worse digestive symptoms and QoL scores. Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
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Review

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30 pages, 1507 KiB  
Review
Real-World Outcomes of Ivacaftor Treatment in People with Cystic Fibrosis: A Systematic Review
by Jamie Duckers, Beth Lesher, Teja Thorat, Eleanor Lucas, Lisa J. McGarry, Keval Chandarana and Fosca De Iorio
J. Clin. Med. 2021, 10(7), 1527; https://doi.org/10.3390/jcm10071527 - 6 Apr 2021
Cited by 32 | Viewed by 5609
Abstract
Cystic fibrosis (CF) is a rare, progressive, multi-organ genetic disease. Ivacaftor, a small-molecule CF transmembrane conductance regulator modulator, was the first medication to treat the underlying cause of CF. Since its approval, real-world clinical experience on the use of ivacaftor has been documented [...] Read more.
Cystic fibrosis (CF) is a rare, progressive, multi-organ genetic disease. Ivacaftor, a small-molecule CF transmembrane conductance regulator modulator, was the first medication to treat the underlying cause of CF. Since its approval, real-world clinical experience on the use of ivacaftor has been documented in large registries and smaller studies. Here, we systematically review data from real-world observational studies of ivacaftor treatment in people with CF (pwCF). Searches of MEDLINE and Embase identified 368 publications reporting real-world studies that enrolled six or more pwCF treated with ivacaftor published between January 2012 and September 2019. Overall, 75 publications providing data from 57 unique studies met inclusion criteria and were reviewed. Studies reporting within-group change for pwCF treated with ivacaftor consistently showed improvements in lung function, nutritional parameters, and patient-reported respiratory and sino-nasal symptoms. Benefits were evident as early as 1 month following ivacaftor initiation and were sustained over long-term follow-up. Decreases in pulmonary exacerbations, Pseudomonas aeruginosa prevalence, and healthcare resource utilization also were reported for up to 66 months following ivacaftor initiation. In studies comparing ivacaftor treatment to modulator untreated comparator groups, clinical benefits similarly were reported as were decreases in mortality, organ-transplantation, and CF-related complications. The safety profile of ivacaftor observed in these real-world studies was consistent with the well-established safety profile based on clinical trial data. Our systematic review of real-world studies shows ivacaftor treatment in pwCF results in highly consistent and sustained clinical benefit in both pulmonary and non-pulmonary outcomes across various geographies, study designs, patient characteristics, and follow-up durations, confirming and expanding upon evidence from clinical trials. Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
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56 pages, 1540 KiB  
Review
Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review
by Renée V. E. Dagenais, Victoria C. Su and Bradley S. Quon
J. Clin. Med. 2021, 10(1), 23; https://doi.org/10.3390/jcm10010023 - 23 Dec 2020
Cited by 96 | Viewed by 10076 | Correction
Abstract
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies target the underlying cause of cystic fibrosis (CF), and are generally well-tolerated; however, real-world studies indicate the frequency of discontinuation and adverse events (AEs) may be higher than what was observed in clinical trials. The [...] Read more.
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies target the underlying cause of cystic fibrosis (CF), and are generally well-tolerated; however, real-world studies indicate the frequency of discontinuation and adverse events (AEs) may be higher than what was observed in clinical trials. The objectives of this systematic review were to summarize real-world AEs reported for market-available CFTR modulators (i.e., ivacaftor (IVA), lumacaftor/ivacaftor (LUM/IVA), tezacaftor/ivacaftor (TEZ/IVA), and elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA)), and to identify ways in which the pharmacist on CF healthcare teams may contribute to mitigating and managing these AEs. The MEDLINE, EMBASE, CINAHL, and Web of Science Core Collection online databases were searched from 2012 to 1 Aug 2020. Full manuscripts or conference abstracts of observational studies, case series, and case reports were eligible for inclusion. The included full manuscripts and conference abstracts comprised of 54 observational studies, 5 case series, and 9 case reports. The types of AEs reported generally aligned with what have been observed in clinical trials. LUM/IVA was associated with a higher frequency of respiratory-related AE and discontinuation in real-world studies. A signal for mental health and neurocognitive AEs was identified with all 4 CFTR modulators. A systematic approach to monitoring for AEs in people with CF on CFTR modulators in the real-world setting is necessary to help better understand potential AEs, as well as patient characteristics that may be associated with higher risk of certain AEs. Pharmacists play a key role in the safe initiation and monitoring of people with CF on CFTR modulator therapies. Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
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11 pages, 653 KiB  
Review
CFTR Modulators: Impact on Fertility, Pregnancy, and Lactation in Women with Cystic Fibrosis
by Jennifer L. Taylor-Cousar
J. Clin. Med. 2020, 9(9), 2706; https://doi.org/10.3390/jcm9092706 - 21 Aug 2020
Cited by 44 | Viewed by 6424
Abstract
Cystic fibrosis (CF) is a life-shortening genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations lead to abnormal ion transport in mucous membranes throughout the body, including in the respiratory and gastrointestinal and reproductive tracts. Improvements [...] Read more.
Cystic fibrosis (CF) is a life-shortening genetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. These mutations lead to abnormal ion transport in mucous membranes throughout the body, including in the respiratory and gastrointestinal and reproductive tracts. Improvements in care and therapy have led to substantial increases in the quantity and quality of life for those with CF. Consequently, women with CF are increasingly interested in having families. Although pregnancy was once discouraged for women with CF, at this point, even women with moderately severe lung disease can successfully navigate pregnancy. With the recent approval of a triple combination CFTR modulator therapy that improves lung function, nutritional status, and quality of life for people with a single copy of the most common CFTR mutation, it is expected that the number of women with CF who choose to become pregnant will continue to increase. Although animal reproduction models show no alarming signals for use during pregnancy at normal human doses, there is a paucity of human safety data in pregnancy and lactation. This review summarizes what is currently known about the impact of use of CFTR modulators on fertility, pregnancy, and lactation in women with CF. Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
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Other

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20 pages, 228 KiB  
Correction
Correction: Dagenais et al. Real-World Safety of CFTR Modulators in the Treatment of Cystic Fibrosis: A Systematic Review. J. Clin. Med. 2021, 10, 23
by Renée V. E. Dagenais, Victoria C. Su and Bradley S. Quon
J. Clin. Med. 2022, 11(2), 318; https://doi.org/10.3390/jcm11020318 - 10 Jan 2022
Cited by 2 | Viewed by 1428
Abstract
In the original article [...] Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
6 pages, 207 KiB  
Brief Report
Extensive CFTR Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers
by Maria Valeria Esposito, Achille Aveta, Marika Comegna, Gustavo Cernera, Paola Iacotucci, Vincenzo Carnovale, Giovanni Taccetti, Vito Terlizzi and Giuseppe Castaldo
J. Clin. Med. 2020, 9(12), 3853; https://doi.org/10.3390/jcm9123853 - 27 Nov 2020
Cited by 6 | Viewed by 2050
Abstract
Background: A wide range of cystic fibrosis (CF)-related conditions are reported in CF carriers, but no study has explored the possibility that such subjects may be affected by cystic fibrosis transmembrane regulator-related disorders (CFTR-RD). No data are available so far on the occurrence [...] Read more.
Background: A wide range of cystic fibrosis (CF)-related conditions are reported in CF carriers, but no study has explored the possibility that such subjects may be affected by cystic fibrosis transmembrane regulator-related disorders (CFTR-RD). No data are available so far on the occurrence of CFTR-RD among CF carriers. Methods: We studied 706 CF carriers—first- and second-degree relatives of CF patients that carried the parental mutation; such subjects were divided in two groups: a first group (353 subjects, group A) performed at first only the analysis of the CFTR proband mutation; we retrospectively evaluated the number of cases that had been diagnosed as CFTR-RD based on subsequent symptoms; a second group (353 subjects, group B) performed extensive CFTR molecular analysis in absence of any reported symptoms, followed by a clinical evaluation in cases that carry a second CFTR mutation; we evaluated the number of cases that prospectively were diagnosed as CFTR-RD. Results: We found seven (2.0%) out of 353 subjects of group A and 24 (6.8%) out of 353 subjects of group B as affected by CFTR-RD (chi square, p = 0.002). Conclusions: A percentage of CF carriers are affected by undiagnosed CFTR-RD. Genetic tasting scanning analysis helps to identify CFTR-RD, some of which may benefit from follow-up and specific therapies improving their outcome. Full article
(This article belongs to the Special Issue Cystic Fibrosis (CF): The Future of CF Care in an Era of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators)
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