Vitamin D status and variable responses to supplements depend in part on genetic factors in adults with cystic fibrosis
It has been known for decades that many people with cystic fibrosis (PwCF) and pancreatic insufficiency (PI) do not achieve normal vitamin D status based on blood concentrations of 25-hydroxyvitamin D (25OHD) despite taking fat-soluble vitamin supplements with good adherence [1 –5]. We consider these patients a distinct CF phenotype and refer to them as “vitamin D non-responders” [1]. They contrast distinctly from the situation with vitamins A and E because supplementation with those fat-soluble vitamins accompanied by adherence is invariably successful, despite the presence of severe PI [4,6]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 21, 2024 Category: Respiratory Medicine Authors: 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 Tags: Short Communication Source Type: research
In vitro modulator responsiveness of 655 CFTR variants found in people with cystic fibrosis
Cystic fibrosis (CF) is a progressive autosomal recessive condition affecting over 40.000 people in the United Stated and over 100.000 people worldwide (Guo J+, 2022 [1]). CF is caused by specific variants1 of the CFTR gene that result, through various mechanisms, in a dysfunctional CFTR protein (Shteinberg M+, 2021 [3]). More than 4000 CFTR variants have been reported, including over 1000 exonic variants (www.genet.sickkids.on.ca, Ideozu ±, 2023 [4]), but not all cause disease. To date, 1654 variants have been reported in pwCF to the Clinical and Functional TRanslation of CFTR (CFTR2) project (https://cftr2.org). (Source...
Source: Journal of Cystic Fibrosis - February 21, 2024 Category: Respiratory Medicine Authors: Hermann Bihler, Andrey Sivachenko, Linda Millen, Priyanka Bhatt, Amita Thakerar Patel, Justin Chin, Violaine Bailey, Isaac Musisi, Andr é LaPan, Normand E. Allaire, Joshua Conte, Noah R. Simon, Amalia S. Magaret, Karen S. Raraigh, Garry R. Cutting, Willi Tags: Original Article Source Type: research
Inhaled antimicrobial prescribing for Pseudomonas aeruginosa infections in Europe
Cystic fibrosis (CF) is an autosomal recessive genetic condition resulting from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, encoding the CFTR protein that regulates anion transport across epithelial cell membranes. Little to no functional CFTR activity in the airways can lead to reduced mucociliary clearance, thickened mucus, increased inflammation and infection with pathogens, such as Pseudomonas aeruginosa (P. aeruginosa) [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 14, 2024 Category: Respiratory Medicine Authors: Callum M. Sloan, Laura J. Sherrard, Gisli G. Einarsson, Lieven J. Dupont, Silke van Koningsbruggen-Rietschel, Nicholas J. Simmonds, Damian G. Downey Tags: Original Article Source Type: research
Heterogeneity of CFTR modulator-induced sweat chloride concentrations in people with cystic fibrosis
Cystic fibrosis (CF) is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene resulting in the absence or dysfunction of CFTR protein, an anion channel in epithelial cells lining the respiratory tract, gastrointestinal system, reproductive system, and sweat glands [1]. In the sweat glands, reduced CFTR activity limits reabsorption of chloride, resulting in abnormally high sweat chloride (SC) concentrations. A CF diagnosis is confirmed by elevated SC concentrations ≥ 60 mmol/L [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 14, 2024 Category: Respiratory Medicine Authors: 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 Tags: Original Article Source Type: research
The importance of understanding cost burden in CF
The recently published scoping review on the economic burden of cystic fibrosis (CF) summarizes much of the research on this important topic [1]. Economic burden can be reported from three different views: cost to a person, cost to the healthcare system, and societal cost. This review correctly points out that much of the current literature focuses on costs to the health care system and not the totality of financial burden experienced by people living with CF. Perhaps more importantly, there is even less published evidence available on the impacts associated with these costs on the individual level. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 13, 2024 Category: Respiratory Medicine Authors: Olivia Dieni, Bruce Marshall, Mary Dwight Source Type: research
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
The availability of highly effective CFTR modulators, especially elexacaftor/tezacaftor/ivacaftor (ETI), has changed the lives of people with cystic fibrosis (pwCF) via marked improvements in lung function, nutrition, exacerbation frequency, and symptoms [1 –3]. As a result, pwCF and their providers have questioned the need for other supportive therapies. Because ETI substantially improves mucociliary clearance (MCC) [4], the additive benefit of hypertonic saline (HS) and dornase alfa (DA) are particularly uncertain [5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 13, 2024 Category: Respiratory Medicine Authors: 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 Tags: Short Communication Source Type: research
Pancreatic enzyme prescription following ivacaftor licensing: A retrospective analysis of the US and UK cystic fibrosis registries
Cystic Fibrosis (CF) is a multi-system, autosomal recessive inherited disease caused by mutations to the cystic fibrosis transmembrane conductance regulator (CFTR) gene. CF affects approximately 10,908 people in the UK and 38,804 in the US [1 –3], with an estimated 100,000 people living with CF worldwide [4]. In 2012, the first CFTR potentiator, ivacaftor (VX-770, Kalydeco®, Vertex Pharmaceuticals) was licenced by the US Food and Drug Administration (FDA) and European Medicines Agency (EMA) for those aged 6 years and above with a G551 D mutation in the CFTR gene [5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 10, 2024 Category: Respiratory Medicine Authors: Rebecca Calthorpe, Margaret Rosenfeld, Christopher H. Goss, Nicole Green, Mark Derleth, Siobh án B Carr, Alan Smyth, Iain Stewart Tags: Original Article Source Type: research
News Article
This study uses data from the large STOP2 study, an RCT investigating duration of antimicrobial treatment during PEx, to perform a secondary analysis of outcomes from systemic corticosteroid use (a stratification criterion during STOP2 randomisation). (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 6, 2024 Category: Respiratory Medicine Source Type: research
An emotional journey: caregiver experiences with gastrostomy tube decision-making for children with cystic fibrosis
Caregivers of children with cystic fibrosis (cwCF) make many important health-related decisions for their children, including decisions about optimizing nutritional status, as higher growth percentiles are associated with improved lung function and survival [1 –4]. Pancreatic insufficiency and the increased metabolic demands of this genetic disorder result in nearly 10 % of cwCF having a weight less than the (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 5, 2024 Category: Respiratory Medicine Authors: Kimberly M. Dickinson, Brandon M. Smith, Deanna M. Green, Samya Nasr, Gregory S. Sawicki, Michael S. Schechter, Kristin A. Riekert Tags: Original Article Source Type: research
First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele
This study provides what seems to be the first description of the duplication of the whole CFTR gene in a newborn infant who s howed elevated immunoreactive trypsinogen (IRT) and also carried R74W and V855I variants. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 5, 2024 Category: Respiratory Medicine Authors: 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 Tags: Short Communication Source Type: research
Optimizing sexual reproductive health of men and women with cystic fibrosis: A systematic review
Cystic fibrosis (CF), a previously fatal disease in infants and young children [1] has seen significant advancements in patient survival and quality of life. In 2021, the average life expectancy for men and women with cystic fibrosis surpassed 50 years [2]. With improvements in the longevity of CF patients, there is a greater desire from both providers and patients to understand and address sexual and reproductive health (SRH) care for CF patients. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 3, 2024 Category: Respiratory Medicine Authors: Anand G. Iyer, Benjamin Yu, Amit Reddy, Mohit Khera Tags: Review Source Type: research
Nontuberculous mycobacterial pulmonary infections in the era of elexacaftor-tezacaftor-ivacaftor
Nontuberculous mycobacteria (NTM) are environmental pathogens that can cause airway infection in susceptible hosts, including people with cystic fibrosis (pwCF). NTM infection in pwCF has been associated with adverse outcomes including poorer lung function and increased rate of lung function decline [1,2]. NTM infection in pwCF is also highly variable and can range from a transient single positive culture to persistent indolent infection to persistent infection with clinical decline attributed to NTM infection (i.e., NTM pulmonary disease (NTM-PD)) [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - February 1, 2024 Category: Respiratory Medicine Authors: Christina M. Mingora, Lindsay J. Caverly Source Type: research
Elexacaftor/tezacaftor/ivacaftor in liver or kidney transplanted people with cystic fibrosis using tacrolimus, a drug-drug interaction study
The combination of cystic fibrosis transmembrane conductance regulator (CFTR) modulators elexacaftor, tezacaftor and ivacaftor (ETI) has shown a life changing clinical effect in people with cystic fibrosis (pwCF) with at least one phe508del mutation [1 –3]. The use of ETI in pwCF after solid organ transplant is controversial because of potential drug-drug interactions (DDI) with tacrolimus, a first-line immunosuppressive agent and a substrate of CYP3A4 [4]. The inhibition of CYP3A4 and the P-gp inhibition by ivacaftor has a potential risk to inc rease the systemic exposure to tacrolimus [5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - January 29, 2024 Category: Respiratory Medicine Authors: 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 Tags: Short Communication Source Type: research
Subtherapeutic triazole concentrations as result of a drug-drug interaction with lumacaftor/ivacaftor
Colonization and infection with fungal species contribute to clinical disease in Cystic Fibrosis (CF) [1,2]. Antifungals in the triazole group, including itraconazole (ITR), posaconazole (POSA), and voriconazole (VOR) are used as therapeutic agents across the spectrum of fungal disease in CF. Since the clinical effect and the occurrence of adverse events with triazoles are correlated with plasma concentrations, therapeutic drug monitoring (TDM) is indicated. The efficacy of triazoles is predicted by the ratio between the area under the concentration-time curve (AUC) and the minimal inhibitory concentration (MIC) of the cau...
Source: Journal of Cystic Fibrosis - January 27, 2024 Category: Respiratory Medicine Authors: T.J.L. Smeets, H. van der Sijs, H.M. Janssens, E.J. Ruijgrok, B.C.M. de Winter Source Type: research
Key inflammatory markers in bronchoalveolar lavage predict bronchiectasis progression in young children with CF
Progression of structural lung disease over time is an important cause of mortality in people with cystic fibrosis (CF). A large proportion of children with CF have already developed bronchiectasis by the age of 5 years [1]. Inflammation plays an important role in the pathogenesis of lung disease in early stages of CF. The lungs of children with CF contain large numbers of neutrophils and increased concentrations of pro-inflammatory cytokines and neutrophil effector proteins [2]. Prior longitudinal studies of young children with CF have shown that specific inflammatory markers correlate with structural lung disease and can...
Source: Journal of Cystic Fibrosis - January 20, 2024 Category: Respiratory Medicine Authors: 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 Tags: Original Article Source Type: research
