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Impact of COVID-19 infection on lung function and nutritional status amongst individuals with cystic fibrosis: A global cohort study J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-08-26 Julie Semenchuk, Yumi Naito, Susan C. Charman, Siobhán B Carr, Stephanie Y. Cheng, Bruce C. Marshall, Albert Faro, Alexander Elbert, Hector H. Gutierrez, Christopher H. Goss, Bulent Karadag, Pierre-Régis Burgel, Carla Colombo, Marco Salvatore, Rita Padoan, Géraldine Daneau, Satenik Harutyunyan, Nataliya Kashirskaya, Laura Kirwan, Peter G Middleton, Rasa Ruseckaite, Isabelle de Monestrol, Lutz Naehrlich
Factors associated with severe COVID-19 infection have been identified; however, the impact of infection on longer-term outcomes is unclear. The objective of this study was to examine the impact of COVID-19 infection on the trajectory of lung function and nutritional status in people with cystic fibrosis (pwCF). This is a retrospective global cohort study of pwCF who had confirmed COVID-19 infection
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Incorporating the perspectives of participants and research coordinators on home spirometry into clinical trial design: The example of the OUTREACH study J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-07-29 Rosenfeld M, Berlinski A, Sawicki G, Nguyen-Kearns E, Fogarty B, Zappone-Case B, Hartzler AL, OUTREACH co-production group, Jacqui Sjoberg, Jen Kyle, Michele Health, Renee Plomondon, Steven Ward, James Cahill
We undertook a human-centered design approach to design the OUTREACH study of home spirometry as a CF clinical trial endpoint. We conducted a qualitative needs assessment to elicit the perspectives of people with CF (PwCF) and research coordinators (RCs) about home spirometry in the research setting and co-produced written and video home spirometry instructions in partnership with representatives from
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Cystic fibrosis cell models for high-throughput analysis and drug screening J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-07-26 Aidi Liu, Mithil Chokshi, Nghi Nguyen, Reid T. Powell, Clifford C. Stephan, Gang Bao
Cystic fibrosis (CF) is a single-gene disorder that affects the lung, digestive system, and other organs. Mutations in the CF transmembrane conductance regulator (CFTR) gene are classified into several classes based on their pathogenic mechanism and clinical severity. The distinct and heterogeneous clinical behavior of each CF class and the respective CFTR mutations have made the development of a durable
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Guiding caregivers of infants with CF in understanding differences in pediatric growth charts J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-07-11 Rosara Bass, Clement Ren, Dorina Kordunova, Terri Schindler, Sandra Salzedo, Makiko Omori, Amanda Leonard, Natalie Scandurro, Michelle Yavelow, Drucy Borowitz, Kate Elizabeth Powers, Karen Maguiness, Meghana Sathe
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Efficacy and safety of LAU-7b in a Phase 2 trial in adults with cystic fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-07-10 Michael W. Konstan, Deepika Polineni, James F. Chmiel, Lara Bilodeau, Peter G. Middleton, Elias Matouk, Jean-Marie Houle, Radu Pislariu, Patrick Colin, Irenej Kianicka, Diane Potvin, Danuta Radzioch, Tom Kotsimbos, Jonathan B. Zuckerman, Samya Z. Nasr, Theodore G. Liou, Larry C. Lands, study Investigators
Lung inflammation is associated with tissue damage in cystic fibrosis (CF). LAU-7b, a novel oral drug candidate, was shown to control inflammation and stabilize CFTR protein in the epithelial membrane during inflammatory stress in preclinical models of CF. A double-blind, randomized, placebo-controlled Phase 2 study was conducted to evaluate efficacy and safety of LAU-7b in adults with CF. LAU-7b or
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Implementation and evaluation of a fertility preservation telehealth counseling intervention for males with cystic fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-06-27 Brittany M. Woods, Leigh A. Bray, Sukhkamal B. Campbell, Peng Li, Traci M. Kazmerski, Cade Hovater, Leslie N. Pitts, Sigrid Ladores
Most males with cystic fibrosis (MwCF) have congenital bilateral absence of the vas deferens and require assisted reproductive technology to conceive, yet many have limited knowledge about how CF affects sexual and reproductive health (SRH). This study evaluates the feasibility, acceptability, and potential effectiveness of telehealth fertility preservation (FP) counseling for MwCF. Pre-lung transplant
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Feasibility and accuracy of at-home glucose tolerance tests for cystic fibrosis related diabetes screening J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-06-27 Laure Alexandre-Heymann, Valérie Boudreau, Noémie Bélanger, Agata Mostkowska, Anne Bonhoure, Annick Lavoie, Rémi Rabasa-Lhoret, Adèle Coriati
Adult people living with Cystic Fibrosis (CF) undergo annual screening for CF-related diabetes. These tests represent a burden and can lead to undesirable effects resulting in low adherence. The objectives of this study were to 1) compare gold-standard in-hospital oral glucose tolerance testing (OGTT) with at-home options, and 2) evaluate acceptability of at-home options. A total of 34 adults living
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Clinical outcomes of two infants with cystic fibrosis, including presence of the vas deferens, born to a woman with cystic fibrosis taking CFTR modulators during both pregnancies J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-06-13 Aleksandra Kowalik, Emma Roberts, Anna Hedborg Harris, Marie Sund, Sara Wird, Ola Kvist, Lena Hjelte
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Pharmacologic contraception methods for people with cystic fibrosis: A practical review for clinicians J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-06-08 E. Claire Elson, Taylor Imburgia, Kevin Lonabaugh, Lindsey McCoy, Nicole E. Omecene, Shannon M. Rotolo
Over the last several decades, substantial treatment advances have improved the quality of life and median predicted survival in people with cystic fibrosis (PwCF). It is critical for CF clinicians to begin to discuss health considerations related to an aging and overall healthier CF population. Such considerations include family planning, reproductive health, and contraception. CF care teams are trusted
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Impact of lumacaftor/ivacaftor on nutrition and growth in modulator-naïve children over 24 weeks J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-24 Alyssa Tindall, Rosara Bass, Asim Maqbool, Virginia A Stallings
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators improve nutritional status and are of importance in achieving normal growth among younger children with CF. The study was designed to examine CFTR modulator-associated changes in nutrition status, including bile acids and fatty acids after lumacaftor/ivacaftor therapy for 24 weeks. Children 2 to 5.9 years were recruited from US and
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Standards for the care of people with cystic fibrosis (CF); Planning for a longer life J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-24 Andrea Gramegna, Charlotte Addy, Lorna Allen, Egil Bakkeheim, Catherine Brown, Thomas Daniels, Gwyneth Davies, Jane C. Davies, Ken De Marie, Damian Downey, Imogen Felton, Sylvia Hafkemeyer, Samia Hamouda, Victoria Kendall, Ulrika Lindberg, Milan Macek, Sarah Mayell, Oren Pearlsman, Michael S. Schechter, Lidia Salvatori, Dorota Sands, Carsten Schwarz, Michal Shteinberg, Julia Taylor, Jennifer L. Taylor-Cousar
This is the final of four papers updating standards for the care of people with CF. That this paper “Planning a longer life” was considered necessary, highlights how much CF care has progressed over the past decade. Several factors underpin this progress, notably increased numbers of people with CF with access to CFTR modulator therapy.
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Improved early growth in Danish children with cystic fibrosis from 2000-2022 J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-23 Karlen Bader-Larsen, Daniel Faurholt-Jepsen, Thomas Bryrup, Esben Herborg Henriksen, Hanne Vebert Olesen, Tacjana Pressler, Marianne Skov, Mette Frahm Olsen
Improved growth in children with CF may have resulted from advances in treatment for cystic fibrosis (CF) over the past two decades, including the implementation of newborn screening in Denmark in 2016. This observational cohort study focuses on changes in early growth in Danish children with CF born between 2000 and January 2022. Age, length/height, and weight data of children 0–5 years old were obtained
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Centralized intestinal organoid generation is a feasible and safe approach for personalized medicine as demonstrated in the HIT-CF Europe Organoid Study J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-18 Marlou C. Bierlaagh, Peter van Mourik, Annelotte M. Vonk, Johanna Pott, Danya Muilwijk, Gitte Berkers, Bente L. Aalbers, Frank P. Vleggaar, Sabine Michel, Sylvia F. Boj, Robert G.J. Vries, Jeffrey M. Beekman, Cornelis K. van der Ent, HIT-CF organoid study group
Patient-derived intestinal organoids (PDIOs) show great potential as in vitro drug testing platform for personalised medicine in Cystic Fibrosis and oncology. PDIOs can be generated by culturing adult stem cells obtained through rectal forceps biopsy or suction biopsy, but the safety of these procedures and the success rates of generating organoids after shipment to a centralized lab using these procedures
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Repeatability and reproducibility of the Forskolin-induced swelling (FIS) assay on intestinal organoids from people with Cystic Fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-14 Marlou C. Bierlaagh, Anabela S. Ramalho, Iris A.L. Silva, Annelotte M. Vonk, Rutger M. van den Bor, Peter van Mourik, Johanna Pott, Sylvia W.F. Suen, Sylvia F. Boj, Robert G.J. Vries, Elise Lammertyn, François Vermeulen, Margarida D. Amaral, Kris de Boeck, Cornelis K. van der Ent, Jeffrey M. Beekman
The forskolin-induced swelling (FIS) assay measures CFTR function on patient-derived intestinal organoids (PDIOs) and may guide treatment selection for individuals with Cystic Fibrosis (CF). The aim of this study is to demonstrate the repeatability and reproducibility of the FIS assay following a detailed Standard Operating Procedure (SOP), thus advancing the validation of the assay for precision medicine
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The clinical utility of sequencing the entirety of CFTR J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-11 Molly B Sheridan, Melis A Aksit, Kymberleigh Pagel, Kurt Hetrick, Hannah Shultz-Lutwyche, Ben Myers, Kati J Buckingham, Rhonda G Pace, Hua Ling, Elizabeth Pugh, Wanda K O'Neal, Michael J Bamshad, Ronald L Gibson, Michael R Knowles, Scott M Blackman, Garry R Cutting, Karen S Raraigh
Cystic fibrosis (CF) is caused by deleterious variants in each gene. We investigated the utility of whole-gene sequencing when fewer than two pathogenic or likely pathogenic (P/LP) variants were detected by conventional testing (sequencing of exons and flanking introns) of . Individuals with features of CF and a CF-diagnostic sweat chloride concentration with zero or one P/LP variants identified by
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A model for oversight of rare disease studies: The 25-year experience of the cystic fibrosis foundation data safety monitoring board J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-07 Lynne M. Quittell, Richard H. Simon, Wayne Morgan
This manuscript addresses the development and operating procedures of the Cystic Fibrosis Foundation Data Safety Monitoring Board (CFF-DSMB) and its role in the development and approval of new therapies through complex clinical trials with an emphasis on ensuring patient safety and study integrity. The authors describe the processes that have been developed over the last 25 years including the development
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Widespread alterations in systemic immune profile are linked to lung function heterogeneity and airway microbes in cystic fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-05-03 Elio Rossi, Mads Lausen, Nina Friesgaard Øbro, Claudia Antonella Colque, Bibi Uhre Nielsen, Rikke Møller, Camilla de Gier, Annemette Hald, Marianne Skov, Tacjana Pressler, Sisse Rye Ostrowski, Hanne Vibeke Marquart, Helle Krogh Johansen
Excessive inflammation and recurrent airway infections characterize people with cystic fibrosis (pwCF), a disease with highly heterogeneous clinical outcomes. How the overall immune response is affected in pwCF, its relationships with the lung microbiome, and the source of clinical heterogeneity have not been fully elucidated. Peripheral blood and sputum samples were collected from 28 pwCF and an age-matched
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Sexual dysfunction in cystic fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-30 Sophie Ramel, Laetitia Gueganton, Emmanuel Nowak, Jean Le Bihan, Baptiste Arnouat, Chantal Belleguic, Isabelle Danner-Boucher, Julie Mankikian, Annabelle Payet, Thierry Urban, Marion Buyse, Katelyne Hubeaux
Sexual dysfunction (erectile dysfunction in males, sexual dissatisfaction, sexual interest/arousal disorders, and dyspareunia in females) has not been the subject of indepth research in people with cystic fibrosis (CF). This study aimed to determine the prevalence of sexual dysfunction in adults with CF, factors associated with sexual dysfunction, and the impact of sexual dysfunction on quality of
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Update on the diagnosis and management of cystic fibrosis pulmonary exacerbations J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-27 Jonathan D. Cogen, Bradley S. Quon
Pulmonary exacerbations in people with cystic fibrosis are associated with significant morbidity and reduced quality of life. Pulmonary exacerbation treatment guidelines, published by an expert panel assembled by the Cystic Fibrosis Foundation nearly 15 years ago, were primarily consensus-based as there were several gaps in the evidence base. In particular, limited evidence existed regarding optimal
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Cystic fibrosis newborn screening in Switzerland – evaluation and scenarios for improvement after 11 years of follow-up J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-23 ESL Pedersen, CM de Jong Carmen, M Jurca, DO Berger, J Sanz, SHM Sluka, M Poms, MR Baumgartner, N Regamey, CE Kuehni, J Barben, CS Rueegg, Swiss Cystic Fibrosis Newborn Screening Group
Newborn bloodspot screening (NBS) for cystic fibrosis (CF) is important for early diagnosis and treatment. However, screening can lead to false-positive results leading to unnecessary follow-up tests and distress. This study evaluated the 11-year performance of the Swiss CF-NBS programme, estimated optimal cut-offs for immunoreactive trypsinogen (IRT), and examined how simulated algorithms would change
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Safety and efficacy of elexacaftor/tezacaftor/ivacaftor in people with Cystic Fibrosis following liver transplantation: A systematic review J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-13 Ilaria Testa, Giuseppe Indolfi, Rossa Brugha, Henkjan J Verkade, Vito Terlizzi
Cystic Fibrosis (CF) liver disease progresses to liver failure requiring transplantation in about 3 % of patients, 0.7 % of CF patients are post liver transplant. The prognosis of CF has improved with the introduction of elexacaftor/tezacaftor/ivacaftor (ETI). Due to the paucity of data and concerns regarding interactions with immunosuppressive drug regimens, there is no general consensus on use of
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Chronic rhinosinusitis in people with CF, a rapidly changing field J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-10 Jochen G. Mainz, Franziska Duckstein, Carlos Zagoya, Assen Koitschev
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The evolving focus of cystic fibrosis microbiome research J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-10 Steven L. Taylor, Geraint B. Rogers
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Sexual & reproductive health in CF – A shared responsibility J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-05 Bethany Collins, Aaron Trimble
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Safety and efficacy of ivacaftor in infants aged 1 to less than 4 months with cystic fibrosis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-04-04 Paul McNally, Alvin Singh, Susanna A. McColley, Jane C. Davies, Mark Higgins, Meng Liu, Jennifer Lu, Violeta Rodriguez-Romero, Judy L. Shih, Margaret Rosenfeld, VX15-770-124 Study Group
Ivacaftor (IVA) has been shown to be safe and efficacious in children aged ≥4 months with cystic fibrosis (CF) and CFTR gating variants. We evaluated safety, pharmacokinetics (PK), and efficacy of IVA in a small cohort of infants aged 1 to <4 months with CF. In this phase 3, open-label study, infants 1 to <4 months with CF and an IVA-responsive CFTR variant received an initial low dose of IVA based
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The impact of switching to race-neutral reference equations on FEV1 percent predicted among people with cystic fibrosis, J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-03-30 Margaret Rosenfeld, Elizabeth A. Cromwell, Michael S. Schechter, Clement Ren, Patrick A. Flume, Rhonda D. Szczesniak, Wayne J. Morgan, Raksha Jain
The American Thoracic Society recommended switching to race-neutral spirometry reference equations, as race is a social construct and to avoid normalizing disparities in lung function due to structural racism. Understanding the impact of the race-neutral equations on percent predicted forced expiratory volume in one second (ppFEV) in people with cystic fibrosis (PwCF) will help prepare patients and
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Covid-19 in cystic fibrosis patients compared to the general population: Severity and virus-host cell interactions J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-03-19 Fabiana Ciciriello, Francesco Panariello, Paola Medino, Arianna Biffi, Federico Alghisi, Chiara Rosazza, Patrizia Annunziata, Valentina Bouchè, Antonio Grimaldi, Daniela Guidone, Arianna Venturini, Gianfranco Alicandro, Massimo Oggioni, Pellegrino Cerino, Giulia Paiola, Andrea Gramegna, Alessandro Fiocchi, Alessandra Bandera, Vincenzina Lucidi, Davide Cacchiarelli, Luis J.V. Galietta, Carla Colombo
People with cystic fibrosis (pwCF) are considered at risk of developing severe forms of respiratory viral infections. We studied the consequences of COVID-19 and virus-host cell interactions in CF vs. non-CF individuals. We enrolled CF and non-CF individuals, with /without COVID-like symptoms, who underwent nasopharyngeal swab for detection of SARS-CoV-2. Gene expression was evaluated by RNA sequencing
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ECFS standards of care on CFTR-related disorders: Identification and care of the disorders J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-03-19 N.J. Simmonds, K.W. Southern, E. De Wachter, K. De Boeck, F. Bodewes, J.G. Mainz, P.G. Middleton, C. Schwarz, V. Vloeberghs, M. Wilschanski, E. Bourrat, J.D. Chalmers, C.Y. Ooi, D. Debray, D.G. Downey, P. Eschenhagen, E. Girodon, G. Hickman, A. Koitschev, D. Nazareth, J.A. Nick, D. Peckham, D. VanDevanter, C. Raynal, I. Scheers, M.D. Waller, I. Sermet-Gaudelus, C. Castellani, ECFS Diagnostic Network
This is the third paper in the series providing updated information and recommendations for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorder (CFTR-RD). This paper covers the individual disorders, including the established conditions - congenital absence of the vas deferens (CAVD), diffuse bronchiectasis and chronic or acute recurrent pancreatitis - and also other
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Correlation between trough concentration and AUC for elexacaftor, tezacaftor and ivacaftor J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-03-16 Steffie E.M. Vonk, Josje Altenburg, Ron A.A. Mathôt, E. Marleen Kemper, Amsterdam Mucociliary Clearance Disease (AMCD) Research Group
Therapeutic drug monitoring (TDM) of elexacaftor, tezacaftor, ivacaftor (ETI) could be a useful tool to increase efficacy and decrease the risk of adverse effects in people with Cystic Fibrosis (pwCF). It is however unclear whether drug exposure should be monitored by assessment of trough (C) levels or determination of the area under the curve (AUC). Hence, in this study the correlation between measured
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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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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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Early onset of abnormal glucose tolerance in patients with cystic fibrosis: A systematic review and meta-analysis J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-03-07 Adrienn F. Kéri, Dorina Bajzát, Zita Andrásdi, Márk Félix Juhász, Rita Nagy, Tamás Kói, Gábor Kovács, Péter Hegyi, Andrea Párniczky
Despite translational evidences suggesting that cystic fibrosis-related abnormal glucose tolerance (CF-related AGT) may begin early in life and is known to be associated with increased morbidity and mortality, current guidelines recommend screening for AGT only from 10 years of age, thus missing the opportunity for early detection and intervention. A systematic review and meta-analysis (PROSPERO number:
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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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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 5.4) 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, ECFS Diagnostic Network Working Group
After three publications defining an updated guidance on the diagnostic criteria for people with cystic fibrosis transmembrane conductance regulator (CFTR)-related disorders (pwCFTR-RDs), establishing its relationship to CFTR-dysfunction and describing the individual disorders, this fourth and last paper in the series addresses some critical challenges facing health care providers and pwCFTR-RD.
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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 5.4) 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 5.4) 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, CHEC-SC Study Group
Sweat chloride (SC) concentrations in people with cystic fibrosis (PwCF) reflect relative CF transmembrane conductance regulator (CFTR) protein function, the primary CF defect. Populations with greater SC concentrations tend to have lesser CFTR function and more severe disease courses. CFTR modulator treatment can improve CFTR function within specific CF genotypes and is commonly associated with reduced
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The importance of understanding cost burden in CF J. Cyst. Fibros. (IF 5.4) 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 5.4) 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
Prescribers have an increasing range of inhaled antimicrobial formulations to choose from when prescribing both eradication and chronic suppression regimens in cystic fibrosis (CF). This study aimed to investigate the decision-making process behind prescribing of inhaled antimicrobials for infections. A questionnaire was developed using Microsoft Forms and then forwarded to 57 Principal Investigators
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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 5.4) 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, SIMPLIFY MCC Study teams
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 5.4) 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 5.4) 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 5.4) 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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Optimizing sexual reproductive health of men and women with cystic fibrosis: A systematic review J. Cyst. Fibros. (IF 5.4) 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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Nontuberculous mycobacterial pulmonary infections in the era of elexacaftor-tezacaftor-ivacaftor J. Cyst. Fibros. (IF 5.4) Pub Date : 2024-02-01 Christina M. Mingora, Lindsay J. Caverly
Abstract not available
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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 5.4) 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
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. In 5 pwCF, tacrolimus concentrations were
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Subtherapeutic triazole concentrations as result of a drug-drug interaction with lumacaftor/ivacaftor J. Cyst. Fibros. (IF 5.4) 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