Current News
Journal of Cystic Fibrosis
CyFidb: A Molecular Atlas for Cystic Fibrosis
Cystic Fibrosis (CF) is a recessive genetic disease estimated to affect over 100,000 individuals worldwide with no cure available [1]. More than 2100 variants have already been reported to occur in the CF Transmembrane Conductance Regulator (CFTR) gene that encodes a channel responsible to maintain the correct salt and water balance at the surface of epithelial cells by regulating the ion flux of chloride (Cl-) and bicarbonate (HCO3-) across the membrane as well as modulating the activity of other ion channels(Cystic Fibrosis Mutation Database, n.d.).
First real-world study of fetal therapy with CFTR modulators in cystic fibrosis: Report from the MODUL-CF study
Since approval of Elexacaftor/Tezacaftor/Ivacaftor (ETI), a Variant Specific Therapy (VST), the prognosis of people with cystic fibrosis (CF) is transformed but challenges remain[1]. Recent case reports showed resolution of meconium ileus (MI) by in utero administration of VST to foetuses with CF[2–5], but this was not always observed, potentially related to timing and length of exposure[6]. Most importantly, it is hoped that this fetal therapy might preserve pancreatic function and potentially prevent vas deferens atresia[7].
Letter in response to letter
To the editor,
Response to editorial
In this issue of the Journal of Cystic Fibrosis there is an editorial by Schechter addressing the three manuscripts on race. We contributed one of the three papers on race, and would like to provide this additional response to the editorial.
Elexacaftor-tezacaftor-ivacaftor pharmacokinetics with concurrent tacrolimus administration after lung transplant
Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are a major advance in the care of people with cystic fibrosis (CF) and contribute to life expectancy estimates that now exceed 60 years of age [1]. Despite the significant improvements seen among the general CF population with elexacaftor/tezacaftor/ivacaftor (ETI), a highly effective CFTR modulator therapy (HEMT), there is uncertainty regarding use of these therapies in CF recipients of solid organ transplant. CF is a multi-system disease, and HEMT has shown significant improvements in many organ systems [2–10], suggesting that patients who receive transplant in one system would still be likely to benefit from HEMT treatment in others.
CFTR modulator therapy via carrier mother to treat meconium ileus in a F508del homozygous fetus: Insights from an unsuccessful case
Since the introduction of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy in 2012, the treatment landscape for cystic fibrosis (CF) has been revolutionized. The approval of elexacaftor/tezacaftor/ivacaftor (ETI) for people with CF (pwCF) aged two and older, marked a milestone, improving lung function, nutritional status, and quality of life. Additionally, pregnancy rates among females with CF (fwCF) increased, with a post-approval “baby boom”, likely attributed to both improved fertility and overall health benefits due to ETI [1].
News article
Mucoid Staphylococcus aureus - Prevalence and Association with Lung Function in People with Cystic Fibrosis. Staphylococcus aureus (S. aureus) and Pseudomonas aeruginosa (P. aeruginosa) are the most common pathogens isolated from the airways of people with cystic fibrosis (pwCF). While there is knowledge about the prevalence and impact of mucoid P. aeruginosa on CF lung disease, there is a lack of information about the prevalence or clinical consequences of mucoid S. aureus. This paper reports the findings of a prospective, cross-sectional and longitudinal, multi-centre study.
Immunogenic adverse events to CFTR modulators – An international survey
Cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy has been approved in an increasing number of countries for the treatment of cystic fibrosis (CF). Ivacaftor and fixed formulations Lumacaftor/Ivacaftor (LI), Tezacaftor/Ivacaftor (TI) and Elexacaftor/Tezacaftor/Ivacaftor (ETI) are available. CFTR modulator therapy is a life-long transformative treatment which is associated with improved quality of life and increased life expectancy. CFTR modulator therapy is mostly well-tolerated, although several cases of CFTR modulator therapy related drug allergy were observed, which in part led to permanent discontinuation of the respective CFTR modulator therapy [2–6].
Race, genetic ancestry, and socioeconomic status – a tangled web
Over the last several decades a robust literature has developed focused on risk factors for CF disease severity. In parallel with health outcomes research in other areas, observational studies going back 30 years show the clear presence of CF-related health disparities associated with socioeconomic status (SES) and, more recently, with minority race and ethnicity [1–3].
Genomic analysis of the liverpool epidemic strain of pseudomonas aeruginosa infecting persons with cystic fibrosis reveals likely Canadian origins
Pseudomonas aeruginosa is a ubiquitous Gram-negative bacterium found typically in natural environments associated with human activity [1] and causes an array of opportunistic human infections [2]. In persons with cystic fibrosis (CF) (pwCF), P. aeruginosa can chronically colonize and infect the airways [2] and become impossible to eradicate [3]. Despite modern advances in treatment, including aggressive early eradication therapy [4] and highly effective cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapy [5], P.
