Dose adjustments of Elexacaftor/Tezacaftor/Ivacaftor in response to mental health side effects in adults with cystic fibrosis
The introduction of elexacaftor, tezacaftor and ivacaftor (ELX/TEZ/IVA) in clinical practice has been life changing for many people with cystic fibrosis (CF). This triple combination of cystic fibrosis transmembrane conductance regulator (CFTR) modulators has proved highly effective at increasing CFTR function in people homozygous or heterozygous for the F508del mutation [1 –3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 15, 2022 Category: Respiratory Medicine Authors: Spoletini G, Gillgrass L, Pollard K, Shaw N, Williams E, Etherington C, Clifton IJ, Peckham DG Source Type: research

Association between stool consistency and clinical variables among infants with cystic fibrosis: Findings from the BONUS study
Gastrointestinal (GI) symptoms in infants with cystic fibrosis (CF) are common and frequently occur prior to the onset of respiratory symptoms [1]. CF transmembrane conductance regulator (CFTR) is present throughout the GI tract with important functions in regulating luminal viscosity, inflammation, gut flora, motility and pH [2 –4]. As such, mutated CFTR can present early in life with a wide variety of clinical symptoms including, but not limited to, meconium ileus, constipation, loose stools, steatorrhea and poor nutrition. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 15, 2022 Category: Respiratory Medicine Authors: A. Jay Freeman, Rong Huang, Sonya L. Heltshe, Daniel Gelfond, Daniel H. Leung, Bonnie R. Ramsey, Drucy Borowitz, Meghana Sathe, BONUS Study Investigators Source Type: research

Research letter: The impact of elexacaftor/tezacaftor/ivacaftor on adherence to nebulized maintenance therapies in people with cystic fibrosis
Nebulized medications to augment mucus clearance and attenuate airway infection have represented cornerstones of the care of people with CF (PwCF). However, administration of these therapies is time-consuming, contributing significantly to treatment burden in CF [1]. Cystic fibrosis transmembrane conductance regulator (CFTR) modulators, such as elexacaftor/tezacaftor/ivacaftor (ETI), are orally administered and treat the underlying cause of CF. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 15, 2022 Category: Respiratory Medicine Authors: Jia Tong Song, Sameer Desai, Alessandro N. Franciosi, Renee V.E. Dagenais, Bradley S. Quon Tags: Letter to the Editor Source Type: research

Rapid chloride and bicarbonate determination by capillary electrophoresis for confirmatory testing of cystic fibrosis infants with volume-limited sweat specimens
Cystic fibrosis (CF) is a life-shortening autosomal recessive disease caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) channel, which leads to chronic malnutrition, progressive pulmonary injury, and other health complications if left untreated [1]. The advent of universal newborn screening (NBS) for CF enables initiation of therapeutic interventions during infancy for improved long-term health outcomes as compared to symptomatic diagnosis [2]. Most CF neonates are screened using a multi-tiered algorithm based on elevated immunoreactive trypsinogen (IRT) along with a panel of one or two ...
Source: Journal of Cystic Fibrosis - May 13, 2022 Category: Respiratory Medicine Authors: Stellena Mathiaparanam, Adriana Nori de Macedo, Biban Gill, Katherine Keenan, Tanja Gonska, Linda Pedder, Stephen Hill, Philip Britz-McKibbin Source Type: research

CFTR dysfunction and targeted therapies: A vision from non-cystic fibrosis bronchiectasis and COPD
Although talking about cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction has traditionally been synonymous with talking about cystic fibrosis (CF) (even the name of the disease itself is included in the name of the molecule), it should be remembered that the term really refers to a continuous spectrum of alterations in the amount and/or function of CFTR, whose genetic basis is known in greater detail and explain, at least in part, the great heterogeneity of CF [1 –3]. At the most severe end of this spectrum lies the loss of function in both copies of the CFTR gene that will cause severe CF while part...
Source: Journal of Cystic Fibrosis - May 9, 2022 Category: Respiratory Medicine Authors: Miguel Angel Martinez-Garcia, Jes ús María Sierra-Párraga, Esther Quintana, Jose Luis López-Campos Source Type: research

Pathological remodeling of distal lung matrix in end-stage cystic fibrosis patients
Manifestations of cystic fibrosis, although well-characterized in the proximal airways, are understudied in the distal lung. Characterization of the cystic fibrosis lung ‘matrisome’ (matrix proteome) has not been previously described, and could help identify biomarkers and inform therapeutic strategies. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 5, 2022 Category: Respiratory Medicine Authors: Meghan R. Pinezich, Manuel A. Tamargo, Sharon Fleischer, Jonathan A. Reimer, Maria R. Hudock, Ahmed E. Hozain, Sarah R. Kaslow, Yuliya Tipograf, Rajesh Kumar Soni, Olimpia P. Gavaudan, Brandon A. Guenthart, Charles C. Marboe, Matthew Bacchetta, John D. O' Source Type: research

Caution advised in the use of CFTR modulator treatment for individuals harboring specific CFTR variants
Cystic fibrosis (CF) is caused by dysfunction or absence of the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Over 2,000 known variants exist in the CFTR gene. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 5, 2022 Category: Respiratory Medicine Authors: Karen S. Raraigh, Michelle H. Lewis, Joseph M. Collaco, Mary Corey, Christopher M. Penland, Anne L. Stephenson, Johanna M. Rommens, Carlo Castellani, Garry R. Cutting Tags: Short Communication Source Type: research

Clinical outcomes of a large cohort of individuals with the F508del/5T;TG12 CFTR genotype
Cystic fibrosis (CF) is the most common life-limiting autosomal recessive inherited disorder caused by variants in the CF transmembrane conductance regulator (CFTR) gene [1]. To date, 382 CFTR variants are known to cause CF amongst the 466 reported in the CFTR2 database (https://cftr2.org/), although only the functional consequences for some have been defined. These variants can be categorized into CF-causing variants, variants with varying clinical consequences, non-CF-causing variants, and variants of unknown significance [1]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 4, 2022 Category: Respiratory Medicine Authors: Antonella Tosco, Alice Castaldo, Carla Colombo, Laura Claut, Vincenzo Carnovale, Paola Iacotucci, Marco Lucarelli, Giuseppe Cimino, Benedetta Fabrizzi, Nicole Caporelli, Fabio Majo, Fabiana Ciciriello, Rita Padoan, Piercarlo Poli, Giovanni Taccetti, Claud Tags: Original Article Source Type: research

Association between early respiratory viral infections and structural lung disease in infants with cystic fibrosis
Infants with cystic fibrosis (CF) can develop trapped air and bronchiectasis early in life, even before 6 months of age, and in the absence of detectable CF respiratory pathogens [1]. Viral infections are associated with progressive clinical deterioration and significant morbidity in people with CF [2 –5]. However, there is insufficient information regarding the role of respiratory viruses in the pathogenesis of early CF lung disease. Viruses may alter the airway environment to permit bacterial colonization and interfere with bacterial clearance from the lungs [6–10]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 3, 2022 Category: Respiratory Medicine Authors: Don B. Sanders, Ashley R. Deschamp, Joseph E. Hatch, James E. Slaven, Netsanet Gebregziabher, Mariette Kemner-van de Corput, Harm A.W.M. Tiddens, Tim Rosenow, Gregory A. Storch, Graham L. Hall, Stephen M. Stick, Sarath Ranganathan, Thomas W. Ferkol, Steph Source Type: research

Early Pseudomonas aeruginosa predicts poorer pulmonary function in preschool children with cystic fibrosis
Life expectancy of individuals born with cystic fibrosis (CF) has dramatically improved recently, largely because of closer monitoring, improved nutrition and more aggressive treatment of lung disease. Recent therapies targeting the primary CF defect are being trialled in infants and young children, potentially enabling a further step change in outcomes [1 –4], but this opportunity also brings a challenge. The age of development of significant lung disease is highly variable [5,6]. Targeting new treatments at infants with higher risk of developing disease could reduce the risk of potential medication side-effects, and sa...
Source: Journal of Cystic Fibrosis - May 1, 2022 Category: Respiratory Medicine Authors: P. Aurora, Julie Anne Duncan, S. Lum, G. Davies, A. Wade, J. Stocks, L. Viviani, E. Raywood, C. Pao, G. Ruiz, A. Bush, London Cystic Fibrosis Collaboration (LCFC) Source Type: research

Angiographic and histopathological study on bronchial-to-pulmonary vascular anastomoses on explants from patients with cystic fibrosis after bronchial artery embolisation
Haemoptysis is a common complication (9%) in cystic fibrosis (CF) patients and is more frequently encountered in patients with a percent predicted forced expiratory volume in 1 second (FEV1) below 70% of the predicted value [1,2]; the event can be life-threatening in cases of massive haemoptysis [3,4]. One of the therapeutic options for haemoptysis management is bronchial artery embolisation (BAE) using embolic microspheres (EMs; the most commonly used embolic agent) [5 –7], and is associated with a high success rate (73−100%) [8,9]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - May 1, 2022 Category: Respiratory Medicine Authors: Paul Habert, Basile Puech, Benjamin Coiffard, V éronique Secq, Pascal Thomas, Romain Bec, Vincent Vidal, Julien Mancini, Julien Bermudez, Martine Reynaud-Gaubert, Jean-Yves Gaubert Source Type: research

Staphylococcus aureus detection from CF respiratory samples is improved using alternative media
To the Editor, (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - April 29, 2022 Category: Respiratory Medicine Authors: Christian F. Zirbes, Nicholas J. Pitcher, Joseph C. Davis, Alyssa R. Bartels, Justin D. Krogh, Mary Teresi, Tyler Farber, Francesca Milavetz, Anthony J. Pamatmat, Alexis L. Rozen, Lindsey D. Reinhardt, Linda Boyken, Sachinkumar B. Singh, Erik Twait, Val Source Type: research

Priority areas in the assessment and treatment of CF exacerbations: Location, duration, inflammation
Acute pulmonary exacerbations of cystic fibrosis (CF) are common events that impact CF patients ’ quality of life and are associated with increased mortality [1]. Although these events are common, many unanswered questions persist regarding the optimal treatment duration, location of treatment and appropriate measurements of their outcomes. In this issue of the journal, four papers focus on different aspects of how CF pulmonary exacerbations are diagnosed and treated. Nicholson et al. [2] presents a systematic review of exacerbation literature, spanning all years up to 2016, just before the landmark STOP2 study [3]. (So...
Source: Journal of Cystic Fibrosis - April 28, 2022 Category: Respiratory Medicine Authors: Suzanne C. Carter, Edward F. McKone Tags: Editorial Source Type: research

Use of elexacaftor/tezacaftor/ivacaftor among cystic fibrosis lung transplant recipients
Cystic fibrosis (CF) is a progressive genetic disease that often requires lung transplant as a life-extending treatment option. Highly effective CF transmembrane conductance regulator (CFTR) modulator treatments (HEMT) have substantially improved pulmonary function and health-related quality of life for people living with CF [1 –3]. Additional benefits of HEMT include improved gastrointestinal (GI) function, growth, pancreatic function, sinus symptoms, and other measures [4–8]. With these profound extrapulmonary clinical improvements, some lung transplant recipients with CF have been started on elexacaftor/tezacaftor/i...
Source: Journal of Cystic Fibrosis - April 23, 2022 Category: Respiratory Medicine Authors: Kathleen J. Ramos, Jennifer S. Guimbellot, Maryam Valapour, Lauren E. Bartlett, Travis Hee Wai, Christopher H. Goss, Joseph M. Pilewski, Albert Faro, Joshua M. Diamond, CFLTC Study Group Tags: Original Article Source Type: research

Antipseudomonal treatment decisions during CF exacerbation management
Chronic Pseudomonas aeruginosa in cystic fibrosis (CF) airways has been associated with accelerated lung disease progression [1,2] and increased mortality risk [3,4]. Accordingly, P. aeruginosa garners particular attention when people with CF experience pulmonary exacerbations (PEx), acute periods of increased respiratory signs and symptoms often accompanied by a drop in lung function [5]. For decades, CF PEx treatment guidelines have suggested that two antipseudomonal antimicrobials be included when treating PEx [6], although objective evidence of the clinical benefit of this practice has been lacking [7 –9]. (Source: J...
Source: Journal of Cystic Fibrosis - April 21, 2022 Category: Respiratory Medicine Authors: D.R. VanDevanter, N.E. West, D.B. Sanders, M. Skalland, C.H. Goss, P.A. Flume, S.L. Heltshe Source Type: research