Publications by authors named "Claudia Rueckes-Nilges"
Cystic fibrosis (CF) is caused by two mutations in the Cystic Fibrosis Transmembrane Conductance Regulator () gene. In the last years, drugs targeting the underlying protein defect like lumacaftor/ivacaftor (LUM/IVA) or tezacaftor/ivacaftor (TEZ/IVA) and more recently elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) were admitted. Outcome parameters evaluating therapy response like forced expiratory pressure in 1 s (FEV), body mass index (BMI) or the efficacy of function in sweat glands showed improvement in several cases.
View Article and Find Full Text PDFThe CFTR (cystic fibrosis transmembrane conductance regulator) modulator combination elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) was shown to improve clinical outcomes and sweat chloride concentration in patients with cystic fibrosis (CF) and one or two alleles. However, the effect of ELX/TEZ/IVA on CFTR function in the airways and intestine has not been studied. To assess the effect of ELX/TEZ/IVA on CFTR function in airway and intestinal epithelia in patients with CF and one or two alleles aged 12 years and older.
View Article and Find Full Text PDFRationale: The combination of the CFTR (cystic fibrosis transmembrane conductance regulator) corrector lumacaftor with the potentiator ivacaftor has been approved for the treatment of patients with cystic fibrosis homozygous for the Phe508del CFTR mutation. The phase 3 trials examined clinical outcomes but did not evaluate CFTR function in patients.
Objectives: To examine the effect of lumacaftor-ivacaftor on biomarkers of CFTR function in Phe508del homozygous patients with cystic fibrosis aged 12 years and older.
Article Synopsis
- Averaging nasal potential difference (NPD) results from both nostrils helps minimize differences among individuals but may underestimate individual CFTR function in cystic fibrosis (CF) patients.
- The study compared the best NPD response from each nostril to the average result among 113 subjects, including CF patients, those who may have CF, and healthy controls, revealing significant variability in individuals.
- Findings indicate that averaging NPD results can lead to a lower assessment of chloride response and misinterpretation of CF diagnosis in nearly 27% of cases, suggesting a need to rethink current averaging practices.
Background: Nasal potential difference (NPD) and intestinal current measurement (ICM) are functional CFTR tests that are used as adjunctive diagnostic tools for cystic fibrosis (CF). Smoking has a systemic negative impact on CFTR function. A diagnostic comparison between NPD and ICM and the impact of smoking on both CFTR tests has not been done.
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