Journal of Cystic Fibrosis最新文献

{"title":"From the editor's desk.","authors":"Patrick A Flume","doi":"10.1016/j.jcf.2025.02.017","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.017","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556913","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Corrigendum to \"Evaluation of the response to elexacaftor-tezacaftor-ivacaftor of the rare CFTR variants L383S, I507del, L1065P and R1066H in intestinal organoid-derived epithelial monolayers\" [Journal of Cystic Fibrosis xxx (2025) 1-10].","authors":"Jessica Conti, Dora Angyal, Karina Kleinfelder, Roberta Valeria Latorre, Martina Calicchia, Alessia Farinazzo, Luca Rodella, Francesco Tomba, Arianna Massella, Luca Frulloni, Giovanni Taccetti, Vito Terlizzi, Cristina Fevola, Anny Leung, Tessa A Groeneweg, Marcel J C Bijvelds, Paola Melotti, Claudio Sorio","doi":"10.1016/j.jcf.2025.02.018","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.018","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mental health and adherence in CF: Self-efficacy and perceived barriers as mediators.","authors":"Robin S Everhart, Milene T Saavedra, Christine R Ford, Sidney L Gibson, Felicia Reid, Emily F Muther, Christina L Duncan, Rachel Cravens, Angela Green, Kristin A Riekert","doi":"10.1016/j.jcf.2025.02.016","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.016","url":null,"abstract":"<p><strong>Background: </strong>Symptoms of depression and anxiety can contribute to lower medical treatment adherence. Given that people with cystic fibrosis (PWCF) have higher rates of depressive and anxiety symptoms than those without cystic fibrosis (CF), this study examined factors that mediated the association between mental health and adherence.</p><p><strong>Methods: </strong>Participants were 294 adults (M age=25 years) with CF who were enrolled in the Daily Care Check-in Validation Study. Participants completed in-clinic questionnaires that assessed depressive and anxiety symptoms, perceived barriers to self-management, and medication self-efficacy. Medication adherence was measured by pharmacy refill data. Parallel mediation models assessed perceived barriers and medication self-efficacy as mediators between depressive symptoms and adherence, and between anxiety symptoms and adherence.</p><p><strong>Results: </strong>Perceived interference of barriers to self-management significantly mediated the association between depressive symptoms and adherence (β =-0.005, SE=0.002, 95 % CI [-0.009, -0.001]), and between anxiety symptoms and adherence (β=-0.005, SE=0.003, 95 % CI [-0.008, -0.001]). Additionally, self-efficacy significantly mediated the association between depressive symptoms and adherence (β=-0.004, SE=0.001, 95 % CI [-0.007, -0.002]), and between anxiety symptoms and adherence (β=-0.004, SE=0.001, 95 % CI [-0.007, -0.001]).</p><p><strong>Conclusions: </strong>This study found that when PWCF experienced mental health symptoms (either anxiety or depression), they were likely to report more interference from barriers to disease management or experience less medication self-efficacy, which was related to worse adherence. Building self-efficacy around taking medications may reduce the impact that mental health symptoms have on adherence. Care teams should also work with PWCF to minimize the impact of barriers on daily therapies.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Strategies used to access CFTR modulators in countries without reimbursement agreements.","authors":"Jonathan Guo, Grace Hennessy, Benedict Young, Andrew Hill","doi":"10.1016/j.jcf.2025.02.010","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.010","url":null,"abstract":"<p><p>CFTR modulators represent the international standard of care for the treatment of cystic fibrosis (CF). Yet due to prices of over $250,000 per year they are functionally inaccessible for people with CF (pwCF) unless reimbursed by healthcare systems. Current prices are unaffordable for payors in almost all low- and middle-income countries (LMICs) worldwide, and resulting disparities in access are widening existing global health inequities. In comparable situations in other therapeutic areas, patients have successfully developed strategies to bypass national reimbursement systems and gain access to treatment. We therefore undertook an international survey of CF clinicians in 15 countries where CFTR modulators are not reimbursed, to characterise alternative means of accessing modulator therapy. Successful methods were identified in 11 countries, and could broadly be categorised into legal challenges to access originator modulators, use of generic formulations, and access via donations. Aside from domestically produced generics used in Argentina and an originator-led donation program in Ukraine, these methods were only able to provide treatment to limited proportions of the local CF population due to significant associated financial costs. Accordingly, they are generally not sustainable or widely applicable, and fail to address the underlying structural issues driving international disparities in access. Twelve years after the initial marketing of CFTR modulators, pwCF in LMICs are being forced to take extraordinary measures to access disease-modifying treatment. Corrective measures are urgently required to overcome barriers posed by restrictive patents and prohibitively high prices, and to promote global health equity for pwCF.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143476590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of pregnancy on mortality and lung function in cystic fibrosis patients.","authors":"Paul K Mohabir, Fatma Gunturkun, Jennifer Cannon, Yaowei Deng, Ariadna Garcia, Eahsan Shahriary, Alicia Mirza","doi":"10.1016/j.jcf.2025.02.004","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.004","url":null,"abstract":"<p><strong>Background: </strong>As the lifespan of people with cystic fibrosis (pwCF) improves, more individuals are pursuing pregnancy. Historically, pregnancy was not recommended in this population; however, more recent evidence has revealed inconsistent survival and lung function outcomes. Our aim was to assess the differences in survival and lung function between pregnant and never-pregnant pwCF and to provide updated recommendations for contemporary clinical practice.</p><p><strong>Methods: </strong>In this retrospective matched parallel cohort study, data was collected from the American Cystic Fibrosis Foundation Patient Registry (CFFPR) from 1999 to 2019. 1743 adult pwCF with a reported pregnancy were matched with 1743 never-pregnant patients. Regression models were developed to estimate associations between patient characteristics, pregnancy, and outcomes. The primary endpoint was the probability of survival comparing pregnant and never-pregnant pwCF, while the secondary endpoint was lung function over time.</p><p><strong>Results: </strong>The study cohort (n = 3486) had a mean age of 24.96 years. There was no significant difference in survival probabilities between pregnant and never-pregnant pwCF (56.2 %, CI^{95 %}: 51.3 %-61.5 % vs. 55.8 %, CI^{95 %}: 52.1 %-59.7 %, p = 0.5). The multivariable time-dependent Cox regression analysis resulted in a significantly lower mortality hazard rate for pregnant cohorts (HR:0.78, p < 0.01). There was no significant association between pregnancy and lung function over time (0.99, p = 0.21).</p><p><strong>Conclusion: </strong>Pregnancy was associated with a reduced hazard of death compared to never-pregnant pwCF and did not demonstrate a significant impact on lung function. Therefore, pregnancy should not be generally discouraged in pwCF and clinicians should evaluate pregnancy risks and benefits on an individualized basis.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The multiple tales on sweat chloride in cystic fibrosis.","authors":"Burkhard Tümmler","doi":"10.1016/j.jcf.2025.02.014","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.014","url":null,"abstract":"","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the response to elexacaftor-tezacaftor-ivacaftor of the rare CFTR variants L383S, I507del, L1065P and R1066H in intestinal organoid-derived epithelial monolayers.","authors":"Jessica Conti, Dora Angyal, Karina Kleinfelder, Roberta Valeria Latorre, Martina Calicchia, Alessia Farinazzo, Luca Rodella, Francesco Tomba, Arianna Massella, Luca Frulloni, Giovanni Taccetti, Vito Terlizzi, Anny Leung, Tessa A Groeneweg, Marcel J C Bijvelds, Paola Melotti, Claudio Sorio","doi":"10.1016/j.jcf.2025.02.008","DOIUrl":"10.1016/j.jcf.2025.02.008","url":null,"abstract":"<p><strong>Introduction: </strong>Cystic fibrosis (CF) is caused by mutation of the CFTR gene, encoding an epithelial anion channel. Here we evaluated the effect of the modulator combination elexacaftor-tezacaftor-ivacaftor (ETI) on the function of four rare, poorly characterized CFTR variants: L383S, I507del, L1065P and R1066H.</p><p><strong>Methods: </strong>Intestinal organoids were obtained from subjects carrying the CFTR variants L383S, I507del, L1065P or R1066H in trans of a minimal function allele (class I mutation). Organoids and epithelial monolayers were used to assess the effect of ETI on CFTR protein abundance and CFTR-mediated chloride, bicarbonate, and fluid transport.</p><p><strong>Results: </strong>In L383S-CFTR expressing cells, normal levels of fully glycosylated CFTR protein (C-band) were detected. In contrast, in I507del, L1065P or R1066H organoids, only partially glycosylated CFTR (B-band) was detected. Chloride/bicarbonate transport was severely impaired in epithelial monolayers prepared from these latter three variants, while anion transport of the L383S variant was affected to a moderate extent. ETI, but not ivacaftor alone, significantly enhanced CFTR-mediated chloride and bicarbonate transport in L1065P and R1066H monolayers, and stimulated fluid transport. A corresponding increase in the abundance of C-band protein was observed in both variants. ETI also modestly improved L383S-CFTR function, with a marginal effect on I507del-CFTR.</p><p><strong>Conclusions: </strong>The I507del, L1065P and R1066H variants display severely impaired function. ETI treatment markedly enhanced L1065P- and R1066HCFTR function, whereas its effect on L383S- CFTR was less pronounced. Consequently, ETI may ameliorate disease symptoms in individuals carrying the L1065P or R1066H variant. More tentative, it may also benefit those carrying the L383S variant.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143468210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cystic fibrosis year in review 2024.","authors":"Amel Alameeri, Burcu Capraz Yavuz, Francesca Lucca, Ivan Bambir, Paulina Famulska, Renata W F Cohen","doi":"10.1016/j.jcf.2025.02.012","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.012","url":null,"abstract":"<p><p>The year 2024 marks a pivotal moment in the field of cystic fibrosis (CF) treatment, characterised by significant advancements in clinical care and an expanding body of literature on CF transmembrane conductance regulator (CFTR) modulators. These CFTR therapies have transformed the landscape of CF management, offered systemic benefits, and established new guidelines for assessing clinical manifestations and therapies. Additionally, progress has been made in newborn screening (NBS), diagnosis, and understanding outcomes for individuals with CF-related metabolic syndrome or inconclusive diagnostic results. However, amidst these clinical milestones, disparities in global access to CFTR modulators (CFTRm) persist, threatening to exacerbate existing inequities in CF care. This review provides a focused overview of the most impactful articles from 2024, highlighting both the clinical advancements and the pressing global accessibility challenges that define this transformative era in CF research and treatment.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458256","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"AI-facilitated home monitoring for cystic fibrosis exacerbations across pediatric and adult populations.","authors":"Henryk Mazurek, Andrzej Emeryk, Kamil Janeczek, Eric Derom, Barbara Kuźnar-Kamińska, Tomasz Grzywalski, Adam Biniakowski, Krzysztof Szarzyński, Anna Pastusiak, Dominika Kaminiarczyk-Pyzałka, Dick Botteldooren, Honorata Hafke-Dys, Jędrzej Kociński","doi":"10.1016/j.jcf.2025.02.011","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.011","url":null,"abstract":"<p><strong>Background: </strong>AI-aided home stethoscopes offer the opportunity of continuous remote monitoring of cystic fibrosis (CF) patients, reducing the need for clinic visits.</p><p><strong>Aim: </strong>This study aimed to analyze the possibility of detecting CF pulmonary exacerbations (PEx) at home using an AI-aided stethoscope (AIS).</p><p><strong>Materials and methods: </strong>In a six-month study, 129 CF patients (85 children, 44 adults) used AIS for at least weekly self-examinations, recording various parameters: wheezes, rhonchi, crackles intensity, respiratory and heart rate, and inspiration-to-expiration ratio. Health state surveys were also completed. Physicians evaluated 5160 examinations to identify PEx. Machine learning models were trained using those parameters, and AUCs were calculated for PEx detection.</p><p><strong>Results: </strong>522 self-examinations were diagnosed clinically as exacerbated. AI-aided home stethoscopes detected 415 exacerbated self-examinations (sensitivity 79.5 % at specificity 89.1 %). Among the single-parameter discriminators, coarse crackles intensity exhibited an AUC of 70 % (95% CI: 65-75) for young children, fine crackles intensity demonstrated an AUC of 75 % (95 % CI: 72-78) for older children, and an AUC of 93 % (95 % CI: 92-93) was achieved for adults using fine crackles intensity. The combination of parameters yielded the highest efficacy, with AUC exceeding 83% for objective parameters from the AI module alone and exceeding 90 % when incorporating both objective and subjective parameters across all groups.</p><p><strong>Conclusions: </strong>The AI-aided home stethoscope has proven to be a reliable tool for detecting PEx with greater accuracy than self-assessment alone. Implementing this technology in healthcare systems has the potential to provide valuable insights for timely intervention and management of PExes.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143458255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of clinical practice guidelines on treatment of cystic fibrosis: A systematic review.","authors":"Yuting Huang, Jingxuan Zhang, Mianquan Zhang, Xuetao Kong, Zhufeng Wang, Yuxiang Zhang, Zhili Zou, Zhuyinjun Zong, Jiaying Guo, Quanzhen Liu, Jing Ling, Wangji Zhou, Xueqi Liu, Jie Liu, Xinlun Tian, Mei Jiang","doi":"10.1016/j.jcf.2025.02.005","DOIUrl":"https://doi.org/10.1016/j.jcf.2025.02.005","url":null,"abstract":"<p><strong>Background: </strong>Despite the existence of numerous clinical practice guidelines (CPGs) for cystic fibrosis (CF), there is limited understanding of their credibility and consistency. This systematic review aims to comprehensively evaluate the quality of CPGs for CF and its pulmonary complications, focusing on treatment recommendations for pulmonary care.</p><p><strong>Methods: </strong>We conducted a comprehensive search across four databases and relevant websites to identify eligible guidelines providing treatment recommendations. The quality of these guidelines was assessed using the Appraisal of Guidelines for Research and Evaluation (AGREE) II tool. Pulmonary treatment recommendations were analyzed and synthesized narratively.</p><p><strong>Results: </strong>A total of 35 guidelines were identified. Most guidelines were of moderate quality according to the AGREE II instrument, with overall scores ranging from 21·05 to 76·13. Only six guidelines were recommended for use. These guidelines provide 359 pulmonary treatment recommendations for seven primary therapies and others. There was inconsistency in the use of airway clearance therapy, anti-inflammatories, antibiotics, inhaled drugs, and cystic fibrosis transmembrane conductance regulator modulator therapy. Four guidelines conditionally advocated for oral corticosteroids, while six opposed routine inhaled corticosteroids. One guideline discouraged lumacaftor-ivacaftor in the general CF population, two recommended only for children under 12 years old, and another strongly advocated for children between 2 and 5 years of age. However, one guideline noted a lack of evidence to recommend it for children under 6.</p><p><strong>Conclusion: </strong>The quality of CPGs for CF and its pulmonary complications has improved over time, reaching a moderate level generally, but there is still room for further improvement. Future efforts should focus on standardizing methodological frameworks and generating robust clinical evidence to enhance the overall quality and applicability of CF guidelines.</p>","PeriodicalId":15452,"journal":{"name":"Journal of Cystic Fibrosis","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143433253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}