Ivacaftor and sinonasal pathology in a cystic fibrosis patient with genotype deltaF508/S1215N

Vreede, Charlotte; Berkhout, M.C.; Sprij, Arwen; Fokkens, Wytske J.; Heijerman, H.G.M.

doi:10.1016/j.jcf.2014.07.013

Cited by 22 publications

(17 citation statements)

References 5 publications

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“…So far, it has not been possible to determine effects of novel therapies on inflammation and remodeling of the airway mucosa in patients with CF. Based on the present study results and considering ongoing developments in OCT technology with improved spatial resolution, our results suggest further development of OCT imaging as a potential minimal-invasive quantitative endpoint of mucosal alterations in CF clinical trials testing novel treatment modalities including systemic causal treatment with recently introduced CFTR modulators ivacaftor and lumacaftor [8,9,[18][19][20] or topical anti-inflammatory and antibiotic treatment with pulsed nasal nebulizers [7,21,22]. In this context, OCT imaging of the nasal mucosa was reproducible and easy to apply in the clinical setting.…”

Section: Discussionsupporting

confidence: 54%

Optical coherence tomography detects structural abnormalitiesof the nasal mucosa in patients with cystic fibrosis

Oltmanns

Palmowski

Wielpütz

et al. 2016

Journal of Cystic Fibrosis

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Section: Discussionsupporting

confidence: 54%

Optical coherence tomography detects structural abnormalitiesof the nasal mucosa in patients with cystic fibrosis

Oltmanns

Palmowski

Wielpütz

et al. 2016

Journal of Cystic Fibrosis

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“…CFTR function, dichotomized to >1% or ≤1%, correlated with a history of surgical intervention for sinus disease. Our results are consistent with those of other studies, which have shown that improving CFTR function with small‐molecule modulators, such as ivacaftor, improves sinus symptoms and reverses sinus disease in patients with CF 33,34 …”

Section: Discussionsupporting

confidence: 92%

Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis

Dalesio

Aksit

Ahn

et al. 2020

Int Forum Allergy Rhinol

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Background Chronic rhinosinusitis symptomatology begins in early childhood individuals with cystic fibrosis (CF). Cystic fibrosis transmembrane conductance regulator (CFTR) function contributes to sinus development and disease. Genetic variants of the bitter taste receptor TAS2R38 have been suggested to contribute to sinus disease severity in individuals without CF. Our objective was to explore whether functional TAS2R38 haplotypes and CFTR function are associated with sinus disease or the need for sinus surgery in individuals with CF. Methods We conducted a retrospective study using prospectively collected data from the CF Twin‐Sibling Study. The function of CFTR was assessed via chloride conductance. Genotyping of the TAS2R38 gene identified patients who were homozygous for the functional haplotype, heterozygous, or homozygous for nonfunctional haplotypes. Clustered multivariate logistic regression was performed, controlling for sex and family relationship. Results A total of 1291 patients were evaluated. Patients with ≤1% CFTR function were 1.56 times more likely to require sinus surgery than those with >1% CFTR function (p = 0.049). CFTR function did not correlate significantly with the presence of sinus disease (p = 0.30). In addition, there were no statistically significant differences in diagnosis of sinus disease or need for sinus surgery between patients with functional and nonfunctional TAS2R38 haplotypes. Conclusion CFTR function correlates with need for sinus surgery, whereas TAS2R38 function does not appear to contribute to sinus disease or the need for sinus surgery in patients with CF.

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“…Previous reports have documented both in vivo and in vitro effects following administration of ivacaftor. Several case reports have reported improvement in objective computed tomography (CT) findings in the sinuses of CF patients after treatment with ivacaftor . Chang et al .…”

Section: Discussionmentioning

confidence: 99%

Ivacaftor improves rhinologic, psychologic, and sleep‐related quality of life in G551D cystic fibrosis patients

McCormick

Cho

Lampkin

et al. 2018

Int Forum Allergy Rhinol

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Background Ivacaftor is a cystic fibrosis transmembrane conductance regulator (CFTR) potentiator that improves pulmonary function in cystic fibrosis (CF) patients with at least 1 copy of the G551D CFTR mutation. The purpose of this study is to evaluate the impact of ivacaftor on chronic rhinosinusitis (CRS) symptoms in this population. Methods The G551D Observational (GOAL) study was a multicenter prospective cohort study enrolling CF patients ≥6 years with at least 1 G551D mutation. Subjects were provided 20‐item Sino‐Nasal Outcome Test (SNOT‐20) questionnaires prior to ivacaftor therapy and at 1, 3, and 6 months afterward. The impact on rhinologic (R), psychological (P), sleep (S), and ear/facial (E) quality of life (QOL) domains was evaluated separately. Results Of 153 subjects, 129 (84%) completed all questionnaires. Typical baseline symptom burden was low (75% with scores <1) and degree of improvement (ie, reduced scores) was greater with higher baseline scores. SNOT‐20 decreased, reflecting improvement, at all follow‐up intervals (1 month: [mean change ± standard deviation] –0.25 ± 0.53, p < 0.01; 3 months; –0.29 ± 0.58, p < 0.01; 6 months: –0.21 ± 0.58, p = 0.02), but less than the prespecified minimal clinically important difference (0.8). Significant improvement was observed at 1, 3, and 6 months in the R domain (1 month: –0.24, p < 0.01; 3 months: –0.34, p < 0.01; 6 months: –0.25, p < 0.01) and P domain (1 month: –0.25, p < 0.01; 3 months: –0.32, p < 0.01; 6 months: –0.26, p < 0.01), and 1 and 3 months in the S domain (1 months: –0.35, p < 0.01; 3 months: –0.32, p < 0.01; 6 months: –0.18, p = 0.07). There was no improvement in the E domain at any time point. Conclusion Ivacaftor improves QOL in the R, P, and S domains in G551D CF patients, although QOL instruments validated for CRS may not translate well to CF CRS patients because symptom burden was surprisingly low.

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Ivacaftor and sinonasal pathology in a cystic fibrosis patient with genotype deltaF508/S1215N

Cited by 22 publications

References 5 publications

Optical coherence tomography detects structural abnormalitiesof the nasal mucosa in patients with cystic fibrosis

Optical coherence tomography detects structural abnormalitiesof the nasal mucosa in patients with cystic fibrosis

Cystic fibrosis transmembrane conductance regulator function, not TAS2R38 gene haplotypes, predict sinus surgery in children and young adults with cystic fibrosis

Ivacaftor improves rhinologic, psychologic, and sleep‐related quality of life in G551D cystic fibrosis patients

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