Reply to the letter Regarding the article entitled “Standards for the care of people with CF: a timely and accurate diagnosis”
With regard to the letter from Dr Camargos [1], we understand that the diagnostic use of sweat conductivity has been and to a certain extent still is a controversial issue. We would like to point out that the statements in the Standards of Care paper on diagnosis of CF mentioned by Dr Camargos and colleagues [2] were reviewed using a modified Delphi methodology by stakeholders from a range of backgrounds and that the statement “The sweat test remains the diagnostic gold standard for CF and should be performed according to the ECFS standards” registered a 97.8 % consensus. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 23, 2023 Category: Respiratory Medicine Authors: C Castellani, K Raraigh, L N ährlich, I Sermet-Gaudelus, NJ Simmonds Source Type: research

Standards for the care of people with cystic fibrosis; establishing and maintaining health
Airway clearance techniques (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 21, 2023 Category: Respiratory Medicine Authors: Kevin Southern, Charlotte Addy, Scott Bell, Amanda Bevan, Urzula Borawska, Catherine Brown, Pierre-R égis Burgel, Brenda Button, Carlo Castellani, Audrey Chansard, Mark Chilvers, Gwyneth Davies, Jane Davies, Kris De Boeck, Dimitri Declercq, Michael Doumi Tags: Original Article Source Type: research

Regarding the article entitled “Standards for the care of people with cystic fibrosis: A timely and accurate diagnosis”
We were very interested to read the paper by Castellani et  al., because it has presented a different point of view from the 2018 European Cystic Fibrosis Society best practice guidelines, which does not mention sweat conductivity [1]. Based on the metanalysis recently published by our team [2], the authors have stated that the “measurement of sweat cond uctivity is not sufficient as a single test to establish a CF diagnosis, but a normal result may be meaningful to exclude a CF diagnosis” [3]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 21, 2023 Category: Respiratory Medicine Authors: Linjie Zhang, Seiko Nomiyama, Renata Marcos Bedran, Cristina Gon çalves Alvim, José Dirceu Ribeiro, Paulo Camargos Source Type: research

Stepping up by stepping down
There are few diseases with treatment burdens as intense as cystic fibrosis. Patient survey data suggests that many people with CF (PwCF) prioritize a less burdensome treatment regimen over outcome measures such as lung function and even life expectancy [1]. These values-based trade-offs have long existed and are potentially accentuated in the era of elexacaftor-tezacaftor-ivacaftor (ETI) when many PwCF have experienced clinical improvements far exceeding that of time-consuming mucolytics and inhaled antibiotics. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 21, 2023 Category: Respiratory Medicine Authors: Christine Bielick Kotkowski, A. Whitney Brown Source Type: research

Sleep breathing disorder frequency, risk factors, and treatment among adults with cystic fibrosis
Our understanding of the prevalence and clinical importance of sleep breathing disorders among adults with cystic fibrosis (CF) is limited. Many published studies on the topic of sleep breathing disorders in adults with CF are historic (dating to the late 1990s-early 2000s [1 –6]) and used small sample sizes (usually ∼10–30 individuals per study [1–7]). While obstructive sleep apnea (OSA) is recognized to frequently occur in children with CF [8,9] (likely as a result of high prevalence of chronic sinonasal disease and tonsillar hypertrophy [10]), in contrast, OSA has been reported to be of very low prevalence [3,7,...
Source: Journal of Cystic Fibrosis - December 19, 2023 Category: Respiratory Medicine Authors: Asma Maqsood, Xiayi Ma, Elizabeth Tullis, Clodagh M Ryan, Anju Anand, Anne L Stephenson, Nicholas T Vozoris Tags: Original Article Source Type: research

The gut microbiota in adults with cystic fibrosis compared to colorectal cancer
Cystic fibrosis (CF) is one of the most common, life-limiting, autosomal recessive conditions affecting Caucasian populations [1]. It is caused by biallelic mutations to the CF transmembrane conductance regulator (CFTR) gene, resulting in the absence or dysfunction of the CFTR anion channel which is expressed in epithelial cells [1]. This complex multisystem disease is associated with numerous physiological effects and complications, including lung infections, inflammation, exocrine pancreatic insufficiency (PI), CF-related diabetes (CFRD), CF-related liver disease (CFRLD) and gut dysbiosis [1,2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 15, 2023 Category: Respiratory Medicine Authors: 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 Tags: Original Article Source Type: research

Case report of two adults with F508del/3849+10  kb C > T genotype regaining exocrine pancreatic function following treatment with elexacaftor/tezacaftor/ivacaftor
Cystic fibrosis (CF) is a quality-of-life-limiting disease due to multiorgan complications. Exocrine pancreatic insufficiency (EPI) is one of the most common characteristics of CF. Pancreatic function depends on a CFTR gene mutation's class [1]. The milder mutation carriers confer a dominant effect on the exocrine pancreatic status. EPI typically occurs in people who carry two severe mutations, while pancreatic sufficiency typically occurs in either both mild or mild  + severe mutation carriers [2]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 14, 2023 Category: Respiratory Medicine Authors: Nela Stastna, Eva Pokojova Tags: Case Report Source Type: research

Lymphocyte transformation tests predict delayed-type allergy to piperacillin/tazobactam in patients with cystic fibrosis
Antibiotic treatment is crucial for patients with cystic fibrosis (CF) due to chronic bacterial lung infections. The prevalence of delayed-type allergic reactions such as skin rashes, drug fever and drug-induced liver injury is higher in CF than in the general population and forms a challenge for patients and caregivers [1 –3]. Past adverse reactions to specific drugs often cause an avoidance of the suspected allergic agent, frequently leading to a suboptimal choice of antibiotic treatment and to premature use of antibiotics of last resort. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 11, 2023 Category: Respiratory Medicine Authors: Jobst F. Roehmel, Alexander Rohrbach, Doris Staab, Marcus A. Mall, Monday Ogese, Friederike Doerfler, Dean Naisbitt Tags: Original Article Source Type: research

Should all children with cystic fibrosis who have responsive CFTR mutations be prescribed CFTR modulators?
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators have been a substantial advance in the treatment of patients with cystic fibrosis (CF). Modulators work through a process of chaperoning mutated CFTR to the epithelial membrane ( ‘corrector’) and improving the function of mutated CFTR at the epithelial surface (‘potentiator’) [1]. CFTR modulators are mutation specific so that not all mutations are responsive. However, the most common mutation (p.F508del, either homozygous or heterozygous) is responsive to a currently available triple combination therapy so that 90% of patients can now receive mod...
Source: Journal of Cystic Fibrosis - December 4, 2023 Category: Respiratory Medicine Authors: John Massie Tags: Review Source Type: research

Measuring the burden of cystic fibrosis: A scoping review
Cystic fibrosis (CF) is a rare autosomal recessive disease that affects multiple organ systems, including the respiratory, digestive and reproductive systems [1]. The implementation of multidisciplinary care teams, newborn screening and advances in supportive medicines has led to steady improvement in CF health outcomes over the past five decades [2]. Nonetheless, in 2019 in North America, Europe and the UK the median age of survival was in the 40 ′s and 50′s [3–5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - December 2, 2023 Category: Respiratory Medicine Authors: Zain M. Cheema, Lilian C. Gomez, Noah Johnson, Olivier D. Laflamme, Harvey R. Rabin, Kim Steele, Jeanette Leong, Stephanie Y. Cheng, Bradley S. Quon, Anne L. Stephenson, W. Dominika Wranik, Mohsen Sadatsafavi, Sanja Stanojevic Tags: Original Article Source Type: research

A discrete choice experiment to quantify the influence of trial features on the decision to participate in cystic fibrosis trials
Patient-centred research is a priority of major research organisations [1,2]. Patient involvement in trial design improves participant satisfaction [3], increases recruitment of more representative patients [4,5] and improves retention to trials [6,7], with a positive impact on improved time and cost efficiency [1,6]. Before the 1990s there were few efforts to understand trial participation from a patient perspective [8]. Recently, interest in this area has increased. Such explorations include qualitatively eliciting patient perceptions of specific aspects of patient involvement [9] and registry analysis to assess which de...
Source: Journal of Cystic Fibrosis - December 1, 2023 Category: Respiratory Medicine Authors: Rebecca Dobra, Jane Davies, Stuart Elborn, Frank Kee, Susan Madge, Marco Boeri Tags: Original Article Source Type: research

How representative are clinical trial cohorts of the general CF population? Implications for trial planning
It is a common phenomenon that trial participants are not fully representative of the clinical population [1], and this is so in cystic fibrosis (CF) trials [2]. This may lead to uncertainties about the safety and efficacy of drugs when they are prescribed to the more heterogeneous clinical population. Additionally, restrictive eligibility criteria reduce the number of patients available to take part in research. The CF trials space is congested and understanding the number of patients eligible to participate in research is important to design protocols and define research priorities at local, national and international le...
Source: Journal of Cystic Fibrosis - November 30, 2023 Category: Respiratory Medicine Authors: Rebecca Dobra, Sophie Pinnell, Andy Jones, Susan Madge, Nicholas J Simmonds, Jane C Davies Tags: Short Communication Source Type: research

Preliminary evidence for sustained efficacy of CFTR modulator therapy with concomitant rifabutin administration
The Cystic Fibrosis Transmembrane Conductance Regular (CFTR) modulator, a combination of elexacaftor, tezacaftor, and ivacaftor (ETI, TRIKAFTA ®), has led to significant improvements in lung function in people with cystic fibrosis (pwCF) [1] [2,3],. However, the concomitant use of strong CYP3A inducers such as rifampin and rifabutin is not recommended since all three components of ETI are primarily eliminated through cytochrome P450 (CYP) 3A-mediated hepatic metabolism [4,5]. A previous pharmacokinetic (PK) study has shown that co-administration of rifampin significantly decreases the area-under-the concentration-time cur...
Source: Journal of Cystic Fibrosis - November 30, 2023 Category: Respiratory Medicine Authors: Eunjin Hong, Sarah M. Parsons, Laura Sass, Cynthia Epstein, Lynn Chan, Claire Brown, Patricia H. Eshaghian, Paul M. Beringer Tags: Short Communication Source Type: research

A longitudinal analysis of respiratory symptoms in people with cystic fibrosis with advanced lung disease on and off ETI
People with Cystic Fibrosis (PwCF) experience frequent respiratory symptoms, including cough, mucus production and fatigue, all particularly problematic in those with advanced lung disease (ALD) [1]. CF-associated symptoms are emotionally and physically burdensome, and symptom reduction is reported as the most important outcome to PwCF [2]. In 2019 elexacaftor/tezacaftor/ivacaftor (ETI) was first approved in the United States (US) for PwCF with at least one F508del mutation. ETI has proven to significantly decrease the frequency of pulmonary exacerbations, reduce respiratory symptoms, and increase lung function in PwCF [3,...
Source: Journal of Cystic Fibrosis - November 25, 2023 Category: Respiratory Medicine Authors: 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 Tags: Short Communication Source Type: research

Immunosuppressant management upon elexacaftor/tezacaftor/ivacaftor initiation in cystic fibrosis patients with prior liver transplant
We read with great interest the report by Tachtatzis et  al. detailing post-liver transplant introduction of elexacaftor/tezacaftor/ivacaftor (ETI) [1]. At our center, the transplant hepatology unit has followed 5 patients, all male, ranging from 22 to 43 years of age, with prior liver transplant (LT) for cystic fibrosis (CF) and recent initiation of ET I (Detailed in Table 1). Median pre-treatment FEV1 was 63 % (33% – 83%). In four cases, immunosuppressive regimen consisted of tacrolimus and in one, a combination of sirolimus and mycophenolate mofetil. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 24, 2023 Category: Respiratory Medicine Authors: Diana Coman, Catherine Vincent, Genevieve Huard, Denis Marleau, Annick Lavoie, Julian Hercun Source Type: research