The last ten years have been characterized by an enormous step forward in the therapy and management of patients with Cystic Fibrosis (CF), thanks to the development and combination of Cystic Fibrosis Transmembrane Receptor (CFTR) correctors and potentiators. Specifically, the last approved triple combination elexacaftor/tezacaftor/ivacaftor has been demonstrated to improve lung function in CF patients with both homozygous Phe508del and Phe508del/minimal function genotypes. Here we have assessed the effect of elexacaftor/tezacaftor/ivacaftor in patients carrying the Phe508del/minimal function genotype (n = 20) after one year of treatments on liver function and nutrient absorption with a focus on lipid metabolism. We show that weight, BMI, and albumin significantly increase, suggesting a positive impact of the treatment on nutrient absorption. Furthermore, cholesterol levels as a biomarker of lipid metabolism increased significantly after one year of treatment. Most importantly, we suggest that these results were not dependent on the diet composition, possibly indicating that the drug improves the hepatic synthesis and secretion of proteins and cholesterol.

BACKGROUND:Elexacaftor/tezacaftor/ivacaftor (ETI) is the newest cystic fibrosis transmembrane conductance regulator (CFTR) modulator drug approved for the treatment of patients with cystic fibrosis (pwCF) aged ≥6 years with at least one copy of the F508del mutation (F) in the CFTR gene or another mutation that is responsive to treatment with ETI. This study determined the effectiveness and safety of ETI in a cohort of severely affected pwCF with an F/F genotype. METHODS:Retrospective observational study in F/F pwCF treated for 48 weeks, enrolled in an ETI managed access program available to subjects with advanced lung disease (ppFEV1 < 40). Twenty-six patients from three centres were included. The main outcomes included lung function, sweat chloride concentration (SCC), nutrition, frequency of pulmonary exacerbations (PEx), CFQ-R, and safety. RESULTS:ppFEV1 improved by 12.06 (95%CI 8.54, 15.57) from baseline after 4 weeks of treatment with ETI, 15.32 (11.3, 19.34) after 24 weeks, and 14.48 (10.64, 18.32) after 48 weeks. The increase in FEV1 was accompanied by a decrease in SCC, improvement of BMI, and noticeable reduction in PEx. An overall good safety profile was observed. CONCLUSIONS:In F/F pwCF with advanced lung disease with an F/F genotype, ETI was safe and associated with clinical improvement.

Background: The aim of this study was to assess the long-term clinical impact of the application of e-health as part of a virtual model of care in patients with Cystic Fibrosis (CF). Methods: Digital care group (DCG) were deemed suitable for using the NuvoAir Home platform to monitor their disease at home as part of a virtual model of care project. The usual care group (UCG) remained on usual care. NuvoAir Home platform consists of a smartphone application, Bluetooth spirometer and a clinician portal. Data on pulmonary function, Cystic Fibrosis Questionnaire-Revised (CFQR) and pulmonary exacerbations were collected at baseline and after twelve months. A survey for the digital care group was emailed to evaluate their experience using the technology. Results: Between February 2020 and May 2020 a cohort of 43 CF patients were recruited for the DCG (26 females; mean age 31.6 +/- 6.8; 16 homozygous for delta F508; FEV1 48.4 +/- 16.3% predicted) and 36 CF patients for UCG (18 females; mean age 29.1 +/- 9.4; 6 homozygous for delta F508; FEV1 77.0 +/- 25.0% predicted). CFQ-R score improved significantly through 12 months in the DCG with a mean change of 13.8 points, p < 0.0001, and no changes for the UCG (p = 0.73). When we analyzed the subgroup of CF patients on digital and usual care who did not receive CFTR modulator therapy, we found a change in CFQ-R score which was significantly associated with the use of digital technology while adjusting for baseline differences (p = 0.020). There was no significant difference in the change in lung function and number of exacerbations. 90% of patients reported they understood their CF better using the NuvoAir Home platform. No changes in medical treatment were reported during that time. Conclusions: The application of digital technologies in the management of adults with CF showed an improvement in patients' quality of life. Using a virtual model of care was well accepted by CF patients and improved their understanding of their medical condition.

Objectives: The aim of this study was to assess the long-term clinical impact of using the NuvoAir Home platform to monitor patients with cystic fibrosis (CF) for more than six months as part of a virtual model of care. Methods: The NuvoAir Home platform consists of a smartphone application, Bluetooth spirometer and a clinician portal. Patients were trained to use the platform and asked to do home spirometry monthly. After each consultation, a survey was emailed to patients to evaluate their experience with the technology. Results: Forty-five consecutive adult CF patients from Federico II Hospital, Naples, Italy (18 males; mean age 31.6±6.7; 17 homozygous for delta F508; FEV1 48.1±16.5 % predicted; FVC 62.9±18.2 % predicted; BMI 22.8±2.8) were recruited from May 2020. A total of 22 (49 %) had completed six months follow-up. Survey responses from all patients showed that the NuvoAir Home platform was easy to use and was a good tool to monitor lung function at home. The vast majority of patients (91,0%) reported that using the NuvoAir Home platform to share results with their CF team improved consultations and that they understood their CF better (81,8%). After six months of using the NuvoAir Home platform, we observed a 5.4% improvement from baseline in FEV1 % predicted, 14.3% in FVC % predicted and 66% reduction in pulmonary exacerbation vs. the previous year. No changes of medical treatment were reported during that time. Conclusions: The NuvoAir Home platform was well accepted by patients with CF and improved their understanding of their medical condition. Using the NuvoAir Home platform led to improved lung function and a reduction in pulmonary exacerbations.