Cystic fibrosis transmembrane conductance regulator modulators for cystic fibrosis: a new dawn?

Edmondson, C.; Course, Christopher William; Doull, Iolo

doi:10.1136/archdischild-2020-320680

Cited by 12 publications

(8 citation statements)

References 31 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In people with the G551D CFTR mutation, treatment with the modulator Ivacaftor did not restore LA or DHA but did decrease AA [ 53 ]. Some more recently developed therapeutics are Elexacaftor, Tezacaftor, and Ivacaftor (marketed as Trikafta or Kaftrio), which target Phe508del homozygous and Phe508del heterozygous mutations in CFTR [ 54 ]. Trikafta improves lung function in people with CF [ 55 ].…”

Section: Effect Of Genotypementioning

confidence: 99%

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

et al. 2022

View full text Add to dashboard Cite

Adequate intake of nutrients such as essential fatty acids (EFA) are critical in cystic fibrosis (CF). The clinical course of deterioration of lung function in people with CF has been shown to relate to nutrition. Independent of the higher energy consumption and malabsorption due to pancreatic insufficiency, EFA deficiency is closely associated with the risk of pulmonary infection, the most significant pathology in CF. This review will focus on the EFA deficiency identified in people with CF, as well as the limited progress made in deciphering the exact metabolic pathways that are dysfunctional in CF. Specifically, people with CF are deficient in linoleic acid, an omega 6 fatty acid, and the ratio of arachidonic acid (omega 6 metabolite) and docosahexaenoic acid (omega 3 metabolite) is increased. Analysis of the molecular pathways in bronchial cells has identified changes in the enzymes that metabolise EFA. However, fatty acid metabolism primarily occurs in the liver, with EFA metabolism in CF liver not yet investigated, indicating that further research is required. Despite limited understanding in this area, it is well known that adequate EFA concentrations are critical to normal membrane structure and function, and thus are important to consider in disease processes. Novel insights into the relationship between CF genotype and EFA phenotype will be discussed, in addition to sex differences in EFA concentrations in people with CF. Collectively, investigating the specific effects of genotype and sex on fatty acid metabolism may provide support for the management of people with CF via personalised genotype- and sex-specific nutritional therapies.

show abstract

Section: Effect Of Genotypementioning

confidence: 99%

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

et al. 2022

View full text Add to dashboard Cite

show abstract

“…This social disconnectedness has also been suggested as a mechanism through which physical illness can impact educational attainment [17]. With the advent of disease modifying treatments (CFTR modulators) for much of the CF population [22], it can be anticipated that children will spend less time in hospital and have less complex treatment regimens which may positively impact their education. This will increase the importance of contemporaneous research investigating the factors that influence the relationship between CF and educational achievement and the potential barriers that children with CF face.…”

Section: Discussionmentioning

confidence: 99%

Educational achievements of children aged 10-11 years with cystic fibrosis. A data linkage study in Wales

Schlüter

Griffiths

Akbari

et al. 2022

IJPDS

View full text Add to dashboard Cite

IntroductionAs people with cystic fibrosis (CF) lead longer, healthier lives, educational qualifications and employment prospects are increasingly important. However, little is known about the social consequences of CF, in particular, any impact on educational achievements and the support children with CF receive in schools. ObjectivesTo assess the educational achievements of children with CF in Wales compared to the general Welsh population, and the additional learning support children with CF receive in schools. MethodsWe conducted a population-scale data linkage study of all children born in Wales using the Secure Anonymised Information Linkage (SAIL) Databank. We used anonymised individual-level population-scale health and administrative data sources to identify children with CF born between 2000 -- 2015, linked to educational attainment records. We calculated the percentage of children that reached expected levels in statutory assessment at age 10-11, Key Stage2 (KS2), and compared this to educational outcomes in the general population. We also assessed the percentage of children with CF that received extra learning support. ResultsOut of 150 eligible children, 119 had KS2 results. 77% (95% CI: 69%-84%) of children achieved expected levels in English, 81% (95% CI: 73% -87%) in Mathematics and 82% (95% CI: 75% - 88%) in Science. In the comparable general Welsh population, 83.4% to 91.1% achieved the expected level in English, 84.9% to 91.6% in Maths, and 87.1% to 92.2% in Science across the years of the study. 70% of children with CF received extra learning support. ConclusionsChildren with CF in Wales may have worse educational achievements than the general population. More research is needed to inform policies and interventions to better support children with CF to reach their full educational potential and employment opportunities.

show abstract

“…CLIMB-CF started enrolling in 2017 adopting one of the first completely Bluetooth handheld spirometers available in the market and demonstrated adherence to home twice weekly spirometry to be 58% over a 6 month study period. 15 The data from the study provides opportunity to address other research questions of relevance to this group of patients. In this study, based on a hypothesis that home spirometry could be used interchangeably with clinic measurements, we aimed to answer three research questions:…”

Section: Introductionmentioning

confidence: 99%

Unsupervised home spirometry is not equivalent to supervised clinic spirometry in children and young people with cystic fibrosis: Results from the CLIMB‐CF study

Edmondson,

Westrupp,

Short

et al. 2023

Pediatric Pulmonology

Self Cite

View full text Add to dashboard Cite

BackgroundHandheld spirometry allows monitoring of lung function at home, of particular importance during the COVID‐19 pandemic. Pediatric studies are unclear on whether values are interchangeable with traditional, clinic‐based spirometry. We aimed to assess differences between contemporaneous, home (unsupervised) and clinic (supervised) spirometry and the variability of the former. The accuracy of the commercially available spirometer used in the study was also tested.MethodsData from participants in the Clinical Monitoring and Biomarkers to stratify severity and predict outcomes in children with cystic fibrosisc (CLIMB‐CF) Study aged ≥ 6 years who had paired (±1 day) clinic and home forced expiratory volume in 1 s (FEV1) readings were analyzed. Variability during clinical stability over 6‐months was assessed. Four devices from Vitalograph were tested using 1 and 3 L calibration syringes.ResultsSixty‐seven participants (median [interquartile range] age 10.7 [7.6−13.9] years) provided home and clinic FEV1 data pairs. The mean (SD) FEV1% bias was 6.5% [±8.2%]) with wide limits of agreement (−9.6% to +22.7%); 76.2% of participants recorded lower results at home. Coefficient of variation of home FEV1% during stable periods was 9.9%. Data from the testing of the handheld device used in CLIMB‐CF showed a potential underread.ConclusionIn children and adolescents, home spirometry using hand‐held equipment cannot be used interchangeably with clinic spirometry. Home spirometry is moderately variable during clinical stability. New handheld devices underread, particularly at lower volumes of potential clinical significance for smaller patients; this suggests that supervision does not account fully for the discrepancy. Opportunities should be taken to obtain dual device measurements in clinic, so that trend data from home can be utilized more accurately.

show abstract

Cystic fibrosis transmembrane conductance regulator modulators for cystic fibrosis: a new dawn?

Cited by 12 publications

References 31 publications

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

Essential Fatty Acid Deficiency in Cystic Fibrosis Disease Progression: Role of Genotype and Sex

Educational achievements of children aged 10-11 years with cystic fibrosis. A data linkage study in Wales

Unsupervised home spirometry is not equivalent to supervised clinic spirometry in children and young people with cystic fibrosis: Results from the CLIMB‐CF study

Contact Info

Product

Resources

About