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Education, employment, and income among people living with cystic fibrosis across three decades – A matched cohort study using Danish health registries J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-14 Camilla Bjørn Jensen, Kristoffer Jarlov Jensen, Tacjana Pressler, Terese L. Katzenstein, Marianne Skov, Tavs Qvist, Mette Frahm Olsen, Majbritt Jeppesen, Søren Jensen-Fangel, Hanne Vebert Olesen, Simon Bertram Reuter, Hans Kristian Råket Pedersen, Joanna Nan Wang, Steven Michalopoulos, Lisa McGarry, Heike Wöhling, Janne Petersen, Espen Jimenez-Solem, the TransformCF study group
Past and ongoing advancements in cystic fibrosis (CF) care warrant long-term analysis of the societal impact of the condition. This study aims to evaluate changes in key socioeconomic factors across three decades among people living with CF (pwCF), compared with both the general population and an early-onset chronic disease population. This nationwide, registry-based, matched cohort study included
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Prioritizing sexual and reproductive health research and care for people with cystic fibrosis: A 2023 workshop report from the Cystic Fibrosis Foundation Sexual Health, Reproduction, and Gender (SHARING) Research Working Group J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-13 Traci M Kazmerski, Christie Moy, Enid Aliaj, Jessica Hudson, Brandon Wright, Maddie Poranski, Jacqui Sjoberg, Jennifer L. Taylor-Cousar, Anna M. Georgiopoulos, Sigrid L. Ladores, Aaron Trimble, Vin Tangpricha, Farah Naz Khan, Ranjith Ramasamy, Danielle Velez Leitner, Natalie E. West, Rochelle Delos Santos, Olivia M Stransky, Alexandra Wilson, Ashley Keller, Raksha Jain
To address sexual and reproductive health (SRH) concerns among people with cystic fibrosis(PwCF), the CF Foundation created the Sexual Health, Reproduction, and Gender Research (SHARING) Working Group. This report summarizes CF community SRH research priorities and workshop discussions/future study planning. Pre-workshop, we distributed a community prioritization survey on CF SRH research/care. During
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Creation of a CF-specific antibiotic spectrum index (ASI) as an antimicrobial stewardship initiative J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-12 Jonathan D. Cogen, Sonya L. Heltshe, Adam W. Brothers, Donald R. VanDevanter, Jeffrey S. Gerber, Matthew P. Kronman, Ranjani Somayaji
Antibiotics are frequently utilized for cystic fibrosis (CF)-related pulmonary exacerbation treatment. The antibiotic spectrum index (ASI) is an antimicrobial stewardship tool developed to compare the relative breadth of individual antibiotics. This study aimed to create two expanded CF-specific ASI scoring indices for use in antimicrobial stewardship research and clinical care. The first scoring index
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Health care resource utilization preceding death or lung transplantation in people with cystic fibrosis: HCRU before transplant or death in cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-12 Erika Guyot, Quitterie Reynaud, Manon Belhassen, Marjorie Bérard, Clémence Dehillotte, Lydie Lemonnier, Marie Viprey, Eric Van Ganse, Pierre-Régis Burgel, Isabelle Durieu
We studied the health care resource utilization (HCRU) and associated costs in the year preceding LT in pwCF or death without LT, and we estimated the overall cost of LT. We performed a linkage between 2006 and 2017 data from the French CF Registry (FCFR) and the French health claims database (Système National des Données de Santé; SNDS). The HCRU and associated costs were described the year before
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Symptoms and quality of life in adults with cystic fibrosis: A cross-sectional analysis of the InSPIRe:CF trial J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-10 Natalia Smirnova, Jane Lowers, Alexandre Cammarata-Mouchtouris, Elisabeth P Dellon, Anne Fitzpatrick, Dio Kavalieratos
People living with cystic fibrosis (CF) experience a high symptom burden. Due to the changing landscape of CF in the era of modulator therapy, we sought to examine the epidemiology of symptoms and their association with quality of life, to help CF clinicians improve symptom screening in clinic. Using baseline data from a trial of specialist palliative care in adults with CF, we examined symptom prevalence
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Alterations in the fecal microbiota in patients with advanced cystic fibrosis liver disease after 6 months of elexacaftor/tezacaftor/ivacaftor J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-06 Jennifer T Duong, Christopher E Pope, Hillary S Hayden, Carson Miller, Stephen J Salipante, Steven M Rowe, George M Solomon, David Nichols, Lucas R Hoffman, Michael R Narkewicz, Nicole Green
Cystic fibrosis associated liver disease (CFLD) carries a significant disease burden with no effective preventive therapies. According to the gut-liver axis hypothesis for CFLD pathogenesis, dysbiosis and increased intestinal inflammation and permeability permit pathogenic bacterial translocation into the portal circulation, leading to hepatic inflammation and fibrosis. Evaluating the effect of CFTR
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Letter to the editor: A contemporary assessment of CFTR modulator use and eligibility J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-04 Jaime L. Rubin, James L. Kreindler
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Clinical efficacy of CFTR modulator therapy in people with cystic fibrosis carrying the I1234V mutation J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-04 Bat El Bar Aluma, Joel Reiter, Ori Efrati, Yael Bezalel, Shlomit Keler, Moshe Ashkenazi, Adi Dagan, Yael Buchnik, Ido Sadras, Malena Cohen-Cymberknoh
The cystic fibrosis transmembrane conductance regulator (CFTR) mutation I1234V (I1234V, p.Ile1234Val, c.3700A>G), is a missense-mutation that creates a cryptic splice site, with the formation of a protein lacking 6 amino acids, that is misfolded and misprocessed. The in vitro effects of CFTR modulator (CFTRm) therapies on human bronchial cell models and intestinal organoids carrying this mutation are
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Year in review 2023 – Back to the future J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-03-02 Luca Cristiani, Flávia Fonseca Fernandes
This review synthesizes articles published in 2023, focusing on the impact of elexacaftor-tezacaftor-ivacaftor (ETI) in cystic fibrosis (CF) care. Real-world data highlights sustained benefits of ETI across age groups, while challenges like neuropsychological side effects persist. Beyond CFTR modulators, research explores telemedicine and novel therapies. Prioritizing equitable access and addressing
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Remote endpoints for clinical trials in cystic fibrosis: Report from the U.S. CF foundation remote endpoints task force J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-29 Jordana E. Hoppe, Jacquelyn Sjoberg, Gina Hong, Katie Poch, Edith T. Zemanick, Stephanie Thee, Claire Edmondson, Dhiren Patel, Meghana Sathe, Drucy Borowitz, Melissa S. Putman, Noah Lechtzin, Kristin A. Riekert, Melissa Basile, Christopher H. Goss, Mary Elizabeth Jarosz, Margaret Rosenfeld
The COVID-19 pandemic necessitated a rapid shift in clinical research to perform virtual visits and remote endpoint assessments, providing a key opportunity to optimize the use of remote endpoints for clinical trials in cystic fibrosis. The use of remote endpoints could allow more diverse participation in clinical trials while minimizing participant burden but must be robustly evaluated to ensure adequate
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SPLUNC1 as a biomarker of pulmonary exacerbations in children with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-27 E. Ben-Meir, L. Perrem, M. Shaw, F. Ratjen, H. Grasemann
Short palate, lung, and nasal epithelium clone 1 (SPLUNC1) is an innate defence protein that acts as an anti-microbial agent and regulates airway surface liquid volume through inhibition of the epithelial sodium channel (ENaC). SPLUNC1 levels were found to be reduced in airway secretions of adults with cystic fibrosis (CF). The potential of SPLUNC1 as a biomarker in children with CF is unknown. We
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Repurposing DNase I and alginate lyase to degrade the biofilm matrix of dual-species biofilms of Staphylococcus aureus and Pseudomonas aeruginosa grown in artificial sputum medium: In-vitro assessment of their activity in combination with broad-spectrum antibiotics J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-24 Zhifen Wang, Rita Vanbever, Joseph H. Lorent, Jessica Solis, Christiane Knoop, Françoise Van Bambeke
Biofilm-associated pulmonary infections pose therapeutic challenges in cystic fibrosis patients, especially when involving multiple bacterial species. Enzymatic degradation of the biofilm matrix may offer a potential solution to enhance antibiotic efficacy. This study investigated the repurposing of DNase I, commonly used for its mucolytic activity in cystic fibrosis, to target extracellular DNA within
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Effectiveness of lumacaftor/ivacaftor initiation in children with cystic fibrosis aged 2 through 5 years on disease progression: Interim results from an ongoing registry-based study J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-23 Claire Kim, Mark Higgins, Lingyun Liu, Nataliya Volkova, Anna Zolin, Lutz Naehrlich, ECFSPR Study Group, Andreas Pfleger (AT), Elise Lammertijn (BE), Duška Tješić-Drinković (HR), Pavel Dřevínek (CZ), Milan Macek Jr (CZ), Hanne Vebert Olesen (DK), Nathalie Senecal (FR), Pierre-Régis Burgel (FR), Godfrey Fletcher (IE), Rita Padoan (IT), Annalisa Orenti (IT), Federico Ambrogi (IT), Simone Gambazza (IT)
Lumacaftor/ivacaftor (LUM/IVA) has been shown to be safe and efficacious in people with cystic fibrosis (CF) ≥1 year of age. To assess the impact of early LUM/IVA initiation on CF disease progression, a 6-year observational study leveraging data from existing CF patient registries is being conducted in children with CF homozygous for ( genotype) who were aged 2 through 5 years at treatment initiation
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In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-22 Hermann Bihler, Andrey Sivachenko, Linda Millen, Priyanka Bhatt, Amita Thakerar Patel, Justin Chin, Violaine Bailey, Isaac Musisi, André LaPan, Normand E. Allaire, Joshua Conte, Noah R. Simon, Amalia S. Magaret, Karen S. Raraigh, Garry R. Cutting, William R. Skach, Robert J. Bridges, Philip J. Thomas, Martin Mense
In 2017, the US Food and Drug Administration initiated expansion of drug labels for the treatment of cystic fibrosis (CF) to include CF transmembrane conductance regulator (CFTR) gene variants based on functional studies. This study aims to identify variants that result in increased chloride (Cl) transport function by the CFTR protein after treatment with the CFTR modulator combination elexacaftor
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ECFS standards of care on CFTR-related disorders: Towards a comprehensive program for affected individuals J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-22 E De Wachter, K De Boeck, I Sermet-Gaudelus, NJ Simmonds, A Munck, L Naehrlich, J Barben, C Boyd, SJ Veen, SB Carr, I Fajac, PM Farrell, E Girodon, T Gonska, WW Grody, M Jain, A Jung, E Kerem, KS Raraigh, S van Koningsbruggen-Rietschel, MD Waller, KW Southern, C Castellani
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Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-21 Andrew T. Braun, HuiChuan J. Lai, Anita Laxova, Julie A. Biller, Erin K. Hubertz, Zijie Zhao, Qiongshi Lu, Sangita Murali, Donna M. Brown, Elizabeth A. Worthey, Philip M. Farrell
Vitamin D sufficiency has been difficult to achieve consistently in patients with cystic fibrosis (CF), even with robust oral supplements. To assess vitamin D status and resistance to supplementation, we studied 80 adults using 25-hydroxyvitamin D (25OHD) determinations and whole genome sequencing to construct polygenic risk scores (PRS) that aggregate variants associated with vitamin D status. The
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Heterogeneity of CFTR modulator-induced sweat chloride concentrations in people with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-15 E.T. Zemanick, I. Emerman, M. McCreary, N. Mayer-Hamblett, M.N. Warden, K. Odem-Davis, D.R. VanDevanter, C.L. Ren, J. Young, M.W. Konstan
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The importance of understanding cost burden in CF J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-14 Olivia Dieni, Bruce Marshall, Mary Dwight
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Inhaled antimicrobial prescribing for Pseudomonas aeruginosa infections in Europe J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-14 Callum M. Sloan, Laura J. Sherrard, Gisli G. Einarsson, Lieven J. Dupont, Silke van Koningsbruggen-Rietschel, Nicholas J. Simmonds, Damian G. Downey
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The effect of discontinuing hypertonic saline or dornase alfa on mucociliary clearance in elexacaftor/tezacaftor/ivacaftor treated people with cystic fibrosis: The SIMPLIFY-MCC Study J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-13 Scott H. Donaldson, Timothy E. Corcoran, Joseph M. Pilewski, Beth L. Laube, Peter Mogayzel, Agathe Ceppe, Jihong Wu, Kirby Zeman, Steven M. Rowe, David P. Nichols, Alex H. Gifford, William D. Bennett, Nicole Mayer-Hamblett
Many people with CF (pwCF) desire a reduction in inhaled treatment burden after initiation of elexacaftor/tezacaftor/ivacaftor. The randomized, open-label SIMPLIFY study showed that discontinuing hypertonic saline (HS) or dornase alfa (DA) was non-inferior to continuation of each treatment with respect to change in lung function over a 6-week period. In this SIMPLIFY substudy, we used gamma scintigraphy
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Pancreatic enzyme prescription following ivacaftor licensing: A retrospective analysis of the US and UK cystic fibrosis registries J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-10 Rebecca Calthorpe, Margaret Rosenfeld, Christopher H. Goss, Nicole Green, Mark Derleth, Siobhán B Carr, Alan Smyth, Iain Stewart
Relieving gastrointestinal symptoms is a research priority in cystic fibrosis. Emerging evidence highlights effects of cystic fibrosis transmembrane conductance regulator (CFTR) modulators on gastrointestinal function, including pancreatic sufficiency. This study explores ivacaftor licensing and treatment on recorded pancreatic enzyme replacement therapy (PERT) prescription in the US and UK CF registries
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An emotional journey: caregiver experiences with gastrostomy tube decision-making for children with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-06 Kimberly M. Dickinson, Brandon M. Smith, Deanna M. Green, Samya Nasr, Gregory S. Sawicki, Michael S. Schechter, Kristin A. Riekert
Nutritional challenges are common in early CF care and stressful for caregivers of children with CF (cwCF) to navigate. Gastrostomy tube (G-tube) placement can improve weight gain, however the decision to proceed with placement is personalized and preference-sensitive. Little is known about the experiences of caregivers of cwCF and the G-tube decision-making process. The present study used a qualitative
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First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-05 Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Simonetta Simonetti, Nenad Bukvic, Matteo Iacoviello, Roberta Bucci, Mattia Gentile, Nicoletta Resta
Cystic fibrosis (CF) is the most common severe autosomal recessive genetic disorder among Caucasians. The improvement of genetic techniques has allowed the identification of an increasing number of genetic variants, including large rearrangements such as duplications. We report the first case of a whole gene duplication in a healthy newborn, who had normal sweat test, also carrying and variants on
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Nontuberculous mycobacterial pulmonary infections in the era of elexacaftor-tezacaftor-ivacaftor J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-01 Christina M. Mingora, Lindsay J. Caverly
Abstract not available
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Optimizing sexual reproductive health of men and women with cystic fibrosis: A systematic review J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-02-03 Anand G. Iyer, Benjamin Yu, Amit Reddy, Mohit Khera
This systematic review summarizes the impact of cystic fibrosis (CF) on sexual and reproductive health (SRH) in males and females, covering pubertal development, hormonal function, family planning, and fertility. Included articles featured historical CF diagnostic criteria, preclinical or clinical data (retrospective cohorts or open label trials), while excluded articles lacked full text availability
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Elexacaftor/tezacaftor/ivacaftor in liver or kidney transplanted people with cystic fibrosis using tacrolimus, a drug-drug interaction study J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-29 Renske van der Meer, Erik B Wilms, Margot N Eggermont, Helena M Paalvast, Matthijs van Luin, Richard C J M van Rossen, Harry G M Heijerman
Background The use of elexacaftor/tezacaftor/ivacaftor (ETI) in people with cystic fibrosis (pwCF) after solid organ transplantation is controversial because of potential drug-drug interactions (DDI) with tacrolimus. We aimed to improve insight into the safety and clinical benefits of co-administration of ETI and tacrolimus in liver or kidney transplanted adult pwCF. Methods In 5 pwCF, tacrolimus concentrations
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Subtherapeutic triazole concentrations as result of a drug-drug interaction with lumacaftor/ivacaftor J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-27 T.J.L. Smeets, H. van der Sijs, H.M. Janssens, E.J. Ruijgrok, B.C.M. de Winter
Lumacaftor/ivacaftor (Orkambi®, LUM/IVA) is indicated for the treatment of cystic fibrosis (CF) patients aged ≥ 2 years with homozygous F580del mutation in the CFTR gene. Triazole fungal agents are used to treat fungal disease in CF. The use of triazoles is limited by pharmacokinetic challenges, such as drug-drug interactions. The most notable drug-drug interaction between triazoles and LUM/IVA is
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Key inflammatory markers in bronchoalveolar lavage predict bronchiectasis progression in young children with CF J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-20 Hamed Horati, Camilla Margaroli, Joshua D. Chandler, Matthew B. Kilgore, Badies Manai, Eleni-Rosalina Andrinopoulou, Limin Peng, Lokesh Guglani, Harm A.M.W. Tiddens, Daan Caudri, Bob J. Scholte, Rabindra Tirouvanziam, HettieM. Janssens
Introduction Inflammation appears early in cystic fibrosis (CF) pathogenesis, with specific elevated inflammatory markers in bronchoalveolar lavage fluid (BALF) correlating with structural lung disease. Our aim was to identify markers of airway inflammation able to predict bronchiectasis progression over two years with high sensitivity and specificity. Methods Children with CF with two chest computed
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Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-16 Pierre-Régis Burgel, Kevin W Southern, Charlotte Addy, Alberto Battezzati, Claire Berry, Jean-Philippe Bouchara, Edwin Brokaar, Whitney Brown, Pilar Azevedo, Isabelle Durieu, Miquel Ekkelenkamp, Felicity Finlayson, Julian Forton, Johanna Gardecki, Pavla Hodkova, Gina Hong, Jacqueline Lowdon, Su Madge, Clémence Martin, Edward McKone, Peter G. Middleton
This is the third in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on recognising and addressing CF health issues. The guidance was produced with wide stakeholder engagement, including people from the CF community, using an evidence-based framework. Authors contributed sections, and summary statements which
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Drug-induced liver injury associated with elexacaftor/tezacaftor/ivacaftor: A pharmacovigilance analysis of the FDA adverse event reporting system (FAERS) J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-16 Alan Shi, Harold Nguyen, C. Benson Kuo, Paul M. Beringer
Introduction The efficacy and safety of elexacaftor/tezacaftor/ivacaftor (ETI) have been established in prospective clinical trials. Liver function test elevations were observed in a greater proportion of patients receiving ETI compared with placebo; however, the relatively small number of patients and short duration of study preclude detection of rare but clinically significant associations with drug-induced
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Preventive service utilization among adults with cystic fibrosis covered by private insurance is comparable to the general population J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-13 Sankalp Malhotra, J. Madison Hyer, Djhenne Dalmacy, Don Hayes, Dmitry Tumin, Stephen E Kirkby, Daniel E Jonas, Seuli Bose-Brill, Susan S. Li
Background As the life expectancy of the cystic fibrosis (CF) population is lengthening with modulator therapies, diligent age-appropriate screening and preventive care are increasingly vital for long-term health and wellbeing. Methods We performed a retrospective analysis comparing rates of receiving age- and sex-appropriate preventive services by commercially insured adult people with CF (PwCF) and
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Elexacaftor/tezacaftor/ivacaftor improves chronic rhinosinusitis detected by magnetic resonance imaging in children with cystic fibrosis on long-term therapy with lumacaftor/ivacaftor J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-13 Lena Wucherpfennig, Johanna K.Z. Becker, Felix Wuennemann, Monika Eichinger, Angelika Seitz, Ingo Baumann, Mirjam Stahl, Simon Y. Graeber, Shengkai Zhao, Jaehi Chung, Jens-Peter Schenk, Abdulsattar Alrajab, Hans-Ulrich Kauczor, Marcus A. Mall, Olaf Sommerburg, Mark O. Wielpütz
Introduction: Previous studies using magnetic resonance imaging (MRI) demonstrated early onset and progression of chronic rhinosinusitis (CRS) from infancy to school age, and response to lumacaftor/ivacaftor (LUM/IVA) therapy in children with cystic fibrosis (CF). However, the effect of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) on CRS detected by MRI in children with CF and at least one F508del
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Nasal lavage microbiome, but not nasal swab microbiome, correlates with sinonasal inflammation in children with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-10 Jaehi Chung, Sébastien Boutin, Dario L. Frey, Cornelia Joachim, Marcus A. Mall, Olaf Sommerburg
Background Cystic fibrosis (CF) is characterized by highly viscous mucus obstructing the lower and upper airways, chronic neutrophil inflammation and infection resulting not only in lung destruction but also in paranasal sinus involvement. The pathogenesis of CF-associated chronic rhinosinusitis (CRS) is still not well understood, and it remains unclear how the microbiome in the upper airways (UAW)
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Neurovascular complications post bronchial artery embolisation in patients with cystic fibrosis. A 7-year single centre retrospective review J. Cyst. Fibros. (IF 5.2) Pub Date : 2024-01-06 Karuna Sapru, Evelyn Looi, Peter J Barry, David Thompson, Dare Seriki, Stephen Butterfield, Andrew M Jones
Bronchial artery embolisation (BAE) is a treatment used to manage haemoptysis. We performed a 7-year review of BAE procedures for haemoptysis at our CF centre aiming to evaluate the incidence and outcomes of patients with neurovascular complications post-BAE. Our review suggests that whilst BAE is an effective method for controlling life-threatening haemoptysis, patients are at risk of developing neurovascular
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Longitudinal changes in the cystic fibrosis airway microbiota with time and treatment J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-28 Gisli G. Einarsson, Laura J. Sherrard, Joseph E. Hatch, Bryan Zorn, Elinor Johnston, Clodagh McGettigan, Katherine O'Neill, Deirdre F. Gilpin, Damian G. Downey, Michelle Murray, Gillian Lavelle, Gerry McElvaney, Matthew C. Wolfgang, Richard Boucher, Marianne S. Muhlebach, Ian Bradbury, J. Stuart Elborn, Michael M. Tunney
Background Whether there is any benefit in integrating culture-independent molecular analysis of the lower airway microbiota of people with cystic fibrosis into clinical care is unclear. This study determined the longitudinal trajectory of the microbiota and if there were microbiota characteristics that corresponded with response to treatment or predicted a future pulmonary exacerbation. Methods At
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Omitting placebos from early-stage clinical trials of cystic fibrosis therapies J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-27 Richard H. Simon, Lynne M. Quittell, Wayne J. Morgan
Abstract not available
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Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-26 Carmen Prior-de Castro, Miguel Ángel Martínez Gallego, Clara Gómez-González, Rubén de Sancho Martín, Carlos Rodríguez-Antolín, Carmen Rodríguez-Jiménez, Ángela del Pozo Mate, Ester Zamarrón de Lucas, Marta Ruiz de Valbuena Maiz, Cristina de Manuel Gómez, Sergio Alcolea Batres, María Concepción Prados Sánchez, Rosa J Torres
Background The diagnosis of cystic fibrosis (CF) is established when characteristic clinical signs are coupled with biallelic CFTR pathogenic variants. No previously reported non-canonical splice site variants have to be considered as variants of uncertain significance unless their effect on splicing has been validated. Methods Two variants identified by next-generation sequencing were evaluated. We
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Reply to the letter Regarding the article entitled “Standards for the care of people with CF: a timely and accurate diagnosis” J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-23 C Castellani, K Raraigh, L Nährlich, I Sermet-Gaudelus, NJ Simmonds
Abstract not available
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Stepping up by stepping down J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-21 Christine Bielick Kotkowski, A. Whitney Brown
Abstract not available
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Regarding the article entitled “Standards for the care of people with cystic fibrosis: A timely and accurate diagnosis” J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-21 Linjie Zhang, Seiko Nomiyama, Renata Marcos Bedran, Cristina Gonçalves Alvim, José Dirceu Ribeiro, Paulo Camargos
Abstract not available
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Standards for the care of people with cystic fibrosis; establishing and maintaining health J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-21 Kevin Southern, Charlotte Addy, Scott Bell, Amanda Bevan, Urzula Borawska, Catherine Brown, Pierre-Régis Burgel, Brenda Button, Carlo Castellani, Audrey Chansard, Mark Chilvers, Gwyneth Davies, Jane Davies, Kris De Boeck, Dimitri Declercq, Michael Doumit, Pavel Drevinek, Isabelle Fajac, Silvia Gartner, Anna Georgiopoulos, Silke van Koningsbruggen-Rietschel
This is the second in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on establishing and maintaining health. The guidance is produced using an evidence-based framework and with wide stakeholder engagement, including people from the CF community. Authors provided a narrative description of their topic and statements
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Sleep breathing disorder frequency, risk factors, and treatment among adults with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-20 Asma Maqsood, Xiayi Ma, Elizabeth Tullis, Clodagh M Ryan, Anju Anand, Anne L Stephenson, Nicholas T Vozoris
Background Our understanding of the epidemiology of sleep breathing disorders among adults with cystic fibrosis (CF) is limited. Our purpose was to describe the frequency, risk factors and treatment of sleep breathing disorders among adults with CF. Methods This was a retrospective analysis of linked data from laboratory-based diagnostic polysomnography (PSG) undertaken at St. Michael's Hospital (Toronto
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The gut microbiota in adults with cystic fibrosis compared to colorectal cancer J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-15 L.R. Caley, H.M. Wood, D. Bottomley, A. Fuentes Balaguer, L. Wilkinson, J. Dyson, C. Young, H. White, S Benton, M. Brearley, P. Quirke, D.G. Peckham
Background Gut dysbiosis is implicated in colorectal cancer (CRC) pathogenesis. Cystic fibrosis (CF) is associated with both gut dysbiosis and increased CRC risk. We therefore compared the faecal microbiota from individuals with CF to CRC and screening samples. We also assessed changes in CRC-associated taxa before and after triple CF transmembrane conductance regulator (CFTR) modulator therapy. Methods
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Case report of two adults with F508del/3849+10 kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-14 Nela Stastna, Eva Pokojova
Abstract not available
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Lymphocyte transformation tests predict delayed-type allergy to piperacillin/tazobactam in patients with cystic fibrosis J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-12 Jobst F. Roehmel, Alexander Rohrbach, Doris Staab, Marcus A. Mall, Monday Ogese, Friederike Doerfler, Dean Naisbitt
Background Antibiotic treatment is crucial for patients with chronic bacterial infections. Suspected drug allergies often lead to inconsistent therapies and challenging clinical management for patients and caregivers. The objective of this study was to evaluate the value of lymphocyte transformation tests in comparison to skin tests for the prediction of delayed-type allergic reactions. Methods This
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Should all children with cystic fibrosis who have responsive CFTR mutations be prescribed CFTR modulators? J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-04 John Massie
Abstract not available
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Measuring the burden of cystic fibrosis: A scoping review J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-03 Zain M. Cheema, Lilian C. Gomez, Noah Johnson, Olivier D. Laflamme, Harvey R. Rabin, Kim Steele, John Wallenburg, Jeanette Leong, Stephanie Y. Cheng, Bradley S. Quon, Anne L. Stephenson, W. Dominika Wranik, Mohsen Sadatsafavi, Sanja Stanojevic
Cystic fibrosis (CF) contributes a significant economic burden on individuals, healthcare systems, and society. Understanding the economic impact of CF is crucial for planning resource allocation. We conducted a scoping review of literature published between 1990 and 2022 that reported the cost of illness, and/or economic burden of CF. Costs were adjusted for inflation and reported as United States
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A discrete choice experiment to quantify the influence of trial features on the decision to participate in cystic fibrosis trials J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-12-01 Rebecca Dobra, Jane Davies, Stuart Elborn, Frank Kee, Susan Madge, Marco Boeri
Background Patient-centred trial design optimises recruitment and retention, reduces trial failure rates and increases the diversity of trial cohorts. This allows safe and effective treatments to reach clinic more quickly. To achieve this, patients’ views must be incorporated into trial design. Methods A discrete choice experiment was used to quantify preferences of pwCF for trials features; medicine
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How representative are clinical trial cohorts of the general CF population? Implications for trial planning J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-30 Rebecca Dobra, Sophie Pinnell, Andy Jones, Susan Madge, Nicholas J Simmonds, Jane C Davies
Understanding the number of patients eligible to participate in research is important to design protocols and define research priorities. We reviewed the records of all patients with CF, age 12+, who receive care at our centre. We assessed their eligibility for trial participation based on common trial inclusion/exclusion criteria. 643 patients were included in the analysis, 31 were modulator ineligible(MI)
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Preliminary evidence for sustained efficacy of CFTR modulator therapy with concomitant rifabutin administration J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-30 Eunjin Hong, Sarah M. Parsons, Laura Sass, Cynthia Epstein, Lynn Chan, Claire Brown, Patricia H. Eshaghian, Paul M. Beringer
The concomitant use of elexacaftor/tezacaftor/ivacaftor (ETI) and strong CYP3A inducers including rifampin and rifabutin is not recommended due to the risk of drug-drug interactions (DDI). This presents a significant challenge to the treatment of non-tuberculous mycobacteria precluding the first line treatment. While rifabutin induces CYP3A activity, its effect appears to be moderate compared to rifampin
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A longitudinal analysis of respiratory symptoms in people with cystic fibrosis with advanced lung disease on and off ETI J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-25 Eliana R. Gill, Lauren E. Bartlett, Tijana Milinic, Nora Burdis, Joseph M. Pilewski, Jordan M. Dunitz, Siddhartha G. Kapnadak, Christopher H. Goss, Kathleen J. Ramos
People with CF (PwCF), particularly those with advanced lung disease (ALD), experience frequent respiratory symptoms. A major CF breakthrough was the approval of elexacaftor/tezacaftor/ivacaftor (ETI) in 2019, which has been shown to improve symptoms and lung function in the CF population, and decrease pulmonary exacerbations. The purpose of this study was to analyze longitudinal changes in respiratory
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Immunosuppressant management upon elexacaftor/tezacaftor/ivacaftor initiation in cystic fibrosis patients with prior liver transplant J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-24 Diana Coman, Catherine Vincent, Genevieve Huard, Denis Marleau, Annick Lavoie, Julian Hercun
Abstract not available
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Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-22 Lara Wolf, Jakob Usemann, Eugénie Collaud, Marie-France Derkenne, Reta Fischer, Maxime Hensen, Michael Hitzler, Markus Hofer, Demet Inci, Sarosh Irani, Kathleen Jahn, Angela Koutsokera, Rachel Kusche, Thomas Kurowski, Philipp Latzin, Dagmar Lin, Laurence Mioranza, Alexander Moeller, Anne Mornand, Dominik Mueller-Suter, Andreas Jung
Background Good data quality is essential when rare disease registries are used as a data source for pharmacovigilance studies. This study investigated data quality of the Swiss cystic fibrosis (CF) registry in the frame of a European Cystic Fibrosis Society Patient Registry (ECFSPR) project aiming to implement measures to increase data reliability for registry-based research. Methods All 20 pediatric
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Decline in HbA1c during the first year of elexacaftor/tezacaftor/ivacaftor treatment in the Danish cystic fibrosis cohort: Short title: Decline in HbA1c after elexacaftor/tezacaftor/ivacaftor treatment J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-21 Bibi Uhre Nielsen, Mette Frahm Olsen, Inger Hee Mabuza Mathiesen, Tacjana Pressler, Christian Ritz, Terese Lea Katzenstein, Hanne Vebert Olesen, Marianne Skov, Søren Jensen-Fangel, Thomas Peter Almdal, Daniel Faurholt-Jepsen
Background Elexacaftor/tezacaftor/ivacaftor (ETI) has improved the clinical status of individuals with cystic fibrosis (CF), however, whether ETI impacts glucose tolerance remains unknown. We aimed to study the change in glycated hemoglobin (HbA1c) and CF related diabetes (CFRD) status after initiation of ETI. Methods We included individuals ≥12 years treated with ETI in Denmark in a longitudinal observational
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Modelling the spread of cystic fibrosis in Brittany using genealogical data over five centuries J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-18 Nadine Pellen, Jean-Yves Le Reste, Jean Argouarc'h
Background The French region of Brittany presents one of the highest cystic fibrosis (CF)-causing allele frequency in Europe. Here, we tested two hypotheses: i) CF-causing allele carriers arrived by sea in the middle of the 1st millennium AD, and ii) a selective advantage for healthy carriers explains this high rate. Methods From the census of cystic fibrosis patients, frequency maps of the most widespread
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The new face of cystic fibrosis in the era of population genetic carrier screening J. Cyst. Fibros. (IF 5.2) Pub Date : 2023-11-18 Miri Dotan, Hannah Blau, Amihood Singer, Patrick Stafler, Dario Prais, Malena Cohen-Cymberknoh, Joel Reiter, Ori Efrati, Adi Dagan, Lea Bentur, Michal Gur, Galit Livnat, Karin Yaacoby-Bianu, Micha Aviram, Inbal Golan Tripto, Ophir Bar-On, Reut Matar, Shani Hagit, Mira Malcov, Gheona Altarescu, Meir Mei-Zahav
Background Population genetic carrier screening (PGCS) for cystic fibrosis (CF) has been offered to couples in Israel since 1999 and was included in a fully subsidized national program in 2008. We evaluated the impact of PGCS on CF incidence, genetic and clinical features. Methods This was a retrospective national study. Demographic and clinical characteristics of children with CF born in Israel between