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
News article
Improvement in lung clearance index and chest CT scores with Elexacaftor/Tezacaftor/Ivacaftor treatment in people with Cystic Fibrosis (pwCF) aged 12 years and older – The RECOVER study. The significant clinical improvements associated with the introduction of ETI therapy for pwCF is now well established, though the impact of ETI on ventilation inhomogeneity and lung structure has remained undescribed. This publication reports data from RECOVER, a real-world s tudy performed in 7 sites in Ireland and the UK. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 23, 2023 Category: Respiratory Medicine Source Type: research
Data accuracy, consistency and completeness of the national Swiss cystic fibrosis patient registry: Lessons from an ECFSPR data quality project
Cystic fibrosis (CF) is a rare inherited disease with an incidence of 1:3357 newborns in Switzerland [1]. In the era of CFTR modulator treatment, pharmacovigilance studies have shifted to confirming results of phase-III studies in real-life scenarios, and patient registries have been recognized as data platforms for real-world evidence. Optimal data quality is a requirement for delivering robust and trustworthy clinical information in this context. This is especially important for rare diseases, as registries can close the gap of lacking large clinical trials due to low patient numbers. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 22, 2023 Category: Respiratory Medicine Authors: Lara Wolf, Jakob Usemann, Eug énie 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, Laurenc Tags: Original Article Source Type: research
Decline in HbA1c during the first year of elexacaftor/tezacaftor/ivacaftor treatment in the Danish cystic fibrosis cohort
Cystic fibrosis (CF) related diabetes (CFRD) is the most common comorbidity in CF with a prevalence ranging between 30 and 50 % in adult populations [1]. CFRD is associated with an increased frequency of pulmonary exacerbations, decreased pulmonary function and increased mortality [1,2]. Moreover, the standard CFRD treatment is insulin [3], which is associated with discomfort and hypoglycemic events [4]. Despite a consta nt improvement in CF care, management of CFRD remains a challenge [5]. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 20, 2023 Category: Respiratory Medicine Authors: Bibi Uhre Nielsen, Mette Frahm Olsen, Inger Hee Mabuza Mathiesen, Tacjana Pressler, Christian Ritz, Terese Lea Katzenstein, Hanne Vebert Olesen, Marianne Skov, S øren Jensen-Fangel, Thomas Peter Almdal, Daniel Faurholt-Jepsen Tags: Original Article Source Type: research
Modelling the spread of cystic fibrosis in Brittany using genealogical data over five centuries
Brittany is a peninsula bordered by 2730 km of coastline at the extreme west of France. The prevalence of cystic fibrosis (CF), the most widespread hereditary disease, is particularly high. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 18, 2023 Category: Respiratory Medicine Authors: Nadine Pellen, Jean-Yves Le Reste, Jean Argouarc'h Tags: Original Article Source Type: research
Factors associated with pubertal growth outcomes in cystic fibrosis
Cystic fibrosis (CF) is a multisystem genetic condition with considerable impacts on growth. Historically, people with CF experienced 2 –4-year pubertal delays theorized to be a manifestation of poor nutrition. [1–13] In the general population, both over- and under-nutrition impact pubertal timing. Nutritional deprivation can slow growth and cause pubertal delay. [14] Interestingly, there is also evidence that malnutrition in th e fetal and neonatal periods is associated with accelerated pubertal onset. (Source: Journal of Cystic Fibrosis)
Source: Journal of Cystic Fibrosis - November 17, 2023 Category: Respiratory Medicine Authors: Rashmi Patil, Amalia S. Magaret, Raksha Jain, Jennifer Taylor-Cousar, Kara S. Hughan, Traci M. Kazmerski Tags: Original Article Source Type: research
Olfactory loss in people with cystic fibrosis: Community perceptions and impact
Olfaction is a critical sense that augments interpersonal communication, impacts nutritional status, and enables avoidance of certain dangers [1]. Olfactory dysfunction (OD) is common in people with cystic fibrosis (PwCF) and has significant adverse effects. Existing studies demonstrate that OD is present in the majority of adults with CF, with rates of olfactory impairment exceeding 90% in certain reports [2 –4]. OD is associated with increased rates of depression and loneliness, negatively impacts quality-of-life (QOL), and is associated with a greater risk of mortality in the general population [1,5,6]. (Source: Journ...
Source: Journal of Cystic Fibrosis - November 17, 2023 Category: Respiratory Medicine Authors: Jessa E. Miller, Christine M. Liu, Edith T. Zemanick, Jason C. Woods, Christopher H. Goss, Jennifer L. Taylor-Cousar, Daniel M. Beswick Tags: Short Communication Source Type: research
