Long-term effectiveness of dual CFTR modulator treatment of cystic fibrosis.

Background: Although short-term efficacy of lumacaftor/ivacaftor and tezacaftor/ivacaftor is clearly established in clinical trials, data on long-term effectiveness is limited. This registry-based cohort study assessed real-world longitudinal outcomes of F508del-homozygous people with cystic fibrosis (pwCF) ≥12 years, up to 3 years after the introduction of dual cystic fibrosis transmembrane conductance regulator (CFTR) modulators.

Methods: Annual data (2010-2019) were retrieved from the Dutch Cystic Fibrosis Registry.

Development and outcomes of a patient driven cystic fibrosis quality of care improvement project.

The Dutch CF Foundation (NCFS) developed a quality improvement program, to assess and improve quality of care in all CF centers in The Netherlands. Criteria to assess quality of care from the patient perspective were defined, and quality of care was assessed by patients via online surveys and site visits. Recommendations were addressed to all centers to improve quality of care.

Factors associated with clinical progression to severe COVID-19 in people with cystic fibrosis: A global observational study.

Background: This international study aimed to characterise the impact of acute SARS-CoV-2 infection in people with cystic fibrosis and investigate factors associated with severe outcomes. Methods Data from 22 countries prior to 13 December 2020 and the introduction of vaccines were included. It was de-identified and included patient demographics, clinical characteristics, treatments, outcomes and sequalae following SARS-CoV-2 infection.

Factors for severe outcomes following SARS-CoV-2 infection in people with cystic fibrosis in Europe.

Background: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in people with cystic fibrosis (pwCF) can lead to severe outcomes.

Methods: In this observational study, the European Cystic Fibrosis Society Patient Registry collected data on pwCF and SARS-CoV-2 infection to estimate incidence, describe clinical presentation and investigate factors associated with severe outcomes using multivariable analysis.

Results: Up to December 31, 2020, 26 countries reported information on 828 pwCF and SARS-CoV-2 infection.

The global impact of SARS-CoV-2 in 181 people with cystic fibrosis.

With the growing SARS-CoV-2 pandemic, we need to better understand its impact in specific patient groups like those with Cystic Fibrosis (CF). We report on 181 people with CF (32 post-transplant) from 19 countries diagnosed with SARS-CoV-2 prior to 13 June 2020. Infection with SARS-CoV-2 appears to exhibit a similar spectrum of outcomes to that seen in the general population, with 11 people admitted to intensive care (7 post-transplant), and 7 deaths (3 post-transplant).

A multinational report to characterise SARS-CoV-2 infection in people with cystic fibrosis.

Unlabelled: Information is lacking on the clinical impact of the novel coronavirus, SARS-CoV-2, on people with cystic fibrosis (CF). Our aim was to characterise SARS-CoV-2 infection in people with cystic fibrosis.

Methods: Anonymised data submitted by each participating country to their National CF Registry was reported using a standardised template, then collated and summarised.

Cystic fibrosis related diabetes in Europe: Prevalence, risk factors and outcome; Olesen et al.

Background: Cystic fibrosis related diabetes (CFRD) has implications for morbidity and mortality with several risk factors identified. We studied the epidemiology of CFRD in the large dataset of the European Cystic Fibrosis Society Patient registry.

Methods: Data on CF patients were investigated for the prevalence of CFRD as well as for any association with suggested risk factors and effects.

Aligning patients' needs and research priorities towards a comprehensive CF research program.

The Dutch CF Foundation started to focus on scientific research thirteen years ago. The patient organization defined the patients perspective and unmet needs bottom-up, and through a structured process. The patients research priorities were matched with the research priorities of Dutch basic scientists and clinicians.

Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands.

Background: Newborn screening for cystic fibrosis (NBSCF) was introduced in the Dutch NBS program in 2011 with a novel strategy.

Methods: Dutch NBSCF consisted of four steps: immuno-reactive trypsin (IRT), Pancreatitis-associated Protein (PAP), DNA analysis by Inno-LiPa (35 mutations), extended gene analysis (EGA) as fourth step and as safety net. Only samples with two CFTR-variants were considered screen-positive, but samples with one disease-causing variant were considered also screen-positive from April 2013.

Risk factors for lung disease progression in children with cystic fibrosis.

To identify potential risk factors for lung disease progression in children with cystic fibrosis (CF), we studied the longitudinal data of all children with CF (aged ≥5 years) registered in the Dutch CF Registry (2009-2014).Lung disease progression was expressed as a decline in lung function (forced expiratory volume in 1 s (FEV) % pred) and pulmonary exacerbation rate. Potential risk factors at baseline included sex, age, best FEV % pred, best forced vital capacity % pred, genotype, body mass index z-score, pancreatic insufficiency, medication use (proton pump inhibitors (PPIs), prophylactic antibiotics and inhaled corticosteroids), CF-related diabetes, allergic bronchopulmonary aspergillosis and colonisation with The data of 545 children were analysed.

Mini-guts in a dish: Perspectives of adult Cystic Fibrosis (CF) patients and parents of young CF patients on organoid technology.

Background: Organoid technology enables the cultivation of human tissues in a dish. Its precision medicine potential could revolutionize the Cystic Fibrosis (CF) field. We provide a first thematic exploration of the patient perspective on organoid technology to set the further research agenda, which is necessary for responsible development of this ethically challenging technology.

Ethnicity impacts the cystic fibrosis diagnosis: A note of caution.

Background: The diagnosis of Cystic Fibrosis (CF) is by consensus based on the same parameters in all patients, yet the influence of ethnicity has only scarcely been studied. We aimed at elucidating the impact of Asian descent on the diagnosis of CF.

Methods: We performed a retrospective analysis of the CFTR2 and UK CF databases for clinical phenotype, sweat chloride values and CFTR mutations and compared the diagnostic characteristics of Asian to non-Asian patients with CF.

Intestinal organoids and personalized medicine in cystic fibrosis: a successful patient-oriented research collaboration.

Purpose Of Review: New therapeutics have been introduced for cystic fibrosis that modulate cystic fibrosis transmembrane conductance regulator (CFTR) function in a mutation-specific fashion. Despite CFTR genotype-based stratification of treatments, treatment efficacy is variable between study participants suggesting that individual factors further contribute to drug efficacy. Moreover, these treatments are licensed for a limited amount of CFTR mutations, and study participants with rare mutations that can potentially benefit from available treatments may be missed.

Height Assessment in the Dutch-Origin Pediatric Cystic Fibrosis Population.

Background: Height evaluation is an integral part of cystic fibrosis (CF) care. Height is compared with reference values by converting it to height-for-age (HFA) z scores. However, HFA z scores do not adjust for genetic potential (ie, target height [TH]), which could result in an incorrect estimation of the height.

Is there evidence for correct diagnosis in cystic fibrosis registries?

Background: Cystic fibrosis (CF) spans a wide spectrum. Therefore, benchmarking between registries implies comparing similar cohorts.

Objective And Methods: Explore patient characteristics in Belgian (B), French (F), German (G) and Dutch (NL) registries (total N=13,122) and determine whether they fulfill predefined diagnostic criteria.

Factors associated with FEV1 decline in cystic fibrosis: analysis of the ECFS patient registry.

Pulmonary insufficiency is the main cause of death in cystic fibrosis (CF). We analysed forced expiratory volume in 1 s (FEV1) data of 14,732 patients registered in the European Cystic Fibrosis Society Patient Registry (ECFSPR) database in 2007. We used linear and logistic regressions to investigate associations between FEV1 % predicted and clinical outcomes.

Correlation of six different cystic fibrosis chest radiograph scoring systems with clinical parameters.

In past decades, several chest radiograph scoring systems for cystic fibrosis were developed. This study was performed to compare interobserver variability of six different radiograph scores and to correlate them with clinical parameters. Thirty chest radiographs of 30 patients with cystic fibrosis were scored according to Shwachman-Kulczycki scoring, Chrispin-Norman scoring, adjusted Chrispin-Norman scoring, Brasfield scoring, Wisconsin scoring, and the Northern scoring system by two independent observers.