Care Of Cystic Fibrosis Patients Research Articles

Diagnosis and Management of Gastrointestinal Manifestations in Children with Cystic Fibrosis.

Cystic fibrosis (CF) is primarily known for its pulmonary consequences, which are extensively explored in the existing literature. However, it is noteworthy that individuals with CF commonly display gastrointestinal (G-I) manifestations due to the substantial presence of the cystic fibrosis transmembrane conductance regulator (CFTR) protein in the intestinal tract. Recognized as pivotal nonpulmonary aspects of CF, G-I manifestations exhibit a diverse spectrum. Identifying and effectively managing these manifestations are crucial for sustaining health and influencing the overall quality of life for CF patients. This review aims to synthesize existing knowledge, providing a comprehensive overview of the G-I manifestations associated with CF. Each specific G-I manifestation, along with the diagnostic methodologies and therapeutic approaches, is delineated, encompassing the impact of innovative treatments targeting the fundamental effects of CF on the G-I tract. The findings underscore the imperative for prompt diagnosis and meticulous management of G-I manifestations, necessitating a multidisciplinary team approach for optimal care and enhancement of the quality of life for affected individuals. In conclusion, the authors emphasize the urgency for further clinical studies to establish a more robust evidence base for managing G-I symptoms within the context of this chronic disease. Such endeavors are deemed essential for advancing understanding and refining the clinical care of CF patients with G-I manifestations.

Cystic Fibrosis: An Updated Comprehensive Review of Literature with Pediatric Dentistry Perspectives

Cystic fibrosis (CF) is a genetic disorder, inherited in an autosomal recessive manner. It affects the multiple organs or organ systems of human body including mainly respiratory, digestive, and renal systems. CF patients may have various orodental problems either directly by the primary disease of CF or indirectly by comorbidities, its complications and by side effects of pharmacotherapies. The optimization of oral health by meticulous dental care is essential aspect and hence must be an integral part of the multidisciplinary management in such patients with CF. Thus, general and pediatric dentist need to remain updated with the pathophysiology of the disease, its medical treatment, and its adverse effects on oral health in order to manage such CF-affected individuals with best scientific evidence-based approach of dentistry. Therefore, the current article has comprehensively reviewed the existing current literature regarding CF to describe its pathophysiology (etiology), clinical features, screening/diagnostic modalities, and management strategies along with its detailed orodental implications of CF and dental management aspects. Moreover, an overview/outline of dental care of CF patients in age-wise manner has been illustrated in this article. The relevant and recent scientific literature for the comprehensive review has been searched using the suitable keywords or its combinations/Boolean operators in different electronic databases (PubMed-Medline, Web of Science, Scopus, and Google Scholar) and, thus, included the topic-related articles published in English literature till 2022. Furthermore, the articles related to orodental implications and the dental management of the CF with the perspectives of pediatric dentistry was also searched and included for review.

Psychometric properties of the Cystic Fibrosis Eating Attitudes and Behaviours scale (CFEAB) in an adult population

ObjectivesIndividuals with Cystic Fibrosis (CF) may be at an increased risk of developing a range of eating difficulties. Scales designed to measure disordered eating in the general population do not cover CF-specific behaviours resulting in a knowledge gap. The CFEAB was developed as a CF-specific measure assessing eating behaviours and attitudes however little evidence exists regarding its psychometric quality. The aim of this cross-sectional study was to provide a robust assessment of its internal consistency, structural validity, and criterion validity. MethodsOne-hundred and thirty-two people with CF completed self-report scales pertaining to mental health, eating disorders, and the Cystic Fibrosis Eating Attitudes and Behaviours (CFEAB). ResultsResults of exploratory structural equation modelling indicated that a three-factor structure produced good fit with the 24-item CFEAB but a purified 12-item CFEAB displayed superior fit and internal consistency. Also, the 12-item scale predicted significant amounts of variance for anxiety, depression, and eating disorders showing enhanced relevance for clinical use. ConclusionsThese findings add emphasis to the importance of the validation and development of CF-specific measures and the possible inclusion at clinics to help improve CF patient care.

Bicarbonate Effects on Antibacterial Immunity and Mucus Glycobiology in the Cystic Fibrosis Lung: A Review With Selected Experimental Observations.

The primary defect in cystic fibrosis (CF) is abnormal chloride and bicarbonate transport in the cystic fibrosis transmembrane conductance regulator (CFTR) epithelial ion channel. The apical surface of the respiratory tract is lined by an airway surface liquid layer (ASL) composed of mucin comprising mainly MUC5A and MUC5B glycoproteins. ASL homeostasis depends on sodium bicarbonate secretion into the airways and secretion deficits alter mucus properties leading to airway obstruction, inflammation, and infections. Downstream effects of abnormal ion transport in the lungs include altered intrinsic immune defenses. We observed that neutrophils killed Pseudomonas aeruginosa more efficiently when it had been exposed to sodium bicarbonate, and formation of neutrophil extracellular traps (NETs) by neutrophils was augmented in the presence of increasing bicarbonate concentrations. Physiological levels of bicarbonate sensitized P. aeruginosa to the antimicrobial peptide cathelicidin LL-37, which is present in both lung ASL and in NETs. Sodium bicarbonate has various uses in clinical medicine and in the care of CF patients, and could be further explored as a therapeutic adjunct against Pseudomonas infections.

Bacterial Culture Underestimates Lung Pathogen Detection and Infection Status in Cystic Fibrosis.

ABSTRACTMicrobiological surveillance of airway secretions is central to clinical care in cystic fibrosis (CF). However, the efficacy of microbiological culture, the diagnostic gold standard for pathogen detection, has been increasingly questioned. Here we compared culture with targeted quantitative PCR (QPCR) for longitudinal detection of 2 key pathogens, Pseudomonas aeruginosa and Staphylococcus aureus. Prospectively collected respiratory samples taken from 20 pediatric and 20 adult CF patients over a period of 3-years were analyzed. Patients were eligible if considered free of chronic Pseudomonas infection within 12-months prior to start of study. QPCR revealed high levels of infection with both pathogens not apparent from culture alone. Pseudomonas and Staphylococcus were detected by culture on at least one sampling occasion in 12 and 29 of the patients, respectively. Conversely, both pathogens were detected in all 40 patients by QPCR. Classification of infection status also significantly altered in both pediatric and adult patients, where the number of patients deemed chronically infected with Pseudomonas and Staphylococcus increased from 1 to 28 and 9 to 34, respectively. Overall, Pseudomonas and Staphylococcus infection status classification changed respectively for 36 and 27 of all patients. In no cases did molecular identification lead to a patient being in a less clinically serious infection category. Pathogen detection and infection status classification significantly increased when assessed by QPCR in comparison to culture. This could have implications for clinical care of CF patients, including accuracy of infection diagnosis, relevant and timely antibiotic selection, antimicrobial resistance development, establishment of chronic infection, and cross-infection control.IMPORTANCE Chronic lung infection is the leading cause of morbidity and early mortality for people with cystic fibrosis (pwCF). Microbiological surveillance to detect lung pathogens is recommended as best practise in CF patient care. Here we studied pathogen detection in 40 pwCF over several years. We found that microbiological culture, the diagnostic gold standard, was significantly disparate to targeted culture-independent approaches for detection and determination of chronic infection status of two important pathogens in CF. Pathogen detection was significantly lower by culture and consequently infection status was also misclassified in most cases. In particular, the extent of chronic infection by both P. aeruginosa and S. aureus not realized with culture was striking. Our findings have implications for the development of infection and clinical care of pwCF. Future longitudinal studies with greater patient numbers will be needed to establish the full extent of the clinical implications indicated from this study.

IMPACT OF PORTABLE SPIROMETERS IN DELIVERY OF CYSTIC FIBROSIS CARE VIA TELEHEALTH

TOPIC: Education, Research, and Quality Improvement TYPE: Original Investigations PURPOSE: Cystic fibrosis (CF) is a chronic, multi-system disorder with significant morbidity and mortality. Consequently, long-term maintenance of this disease is heavily dependent on regular monitoring and treatments. The delivery of telehealth has become a topic of increasing importance since the onset of the COVID-19 pandemic. As such, portable spirometers have gained popularity in at-home care for CF patients. Forced expiratory volume (FEV1) is important clinical data used to assess the status of a patient’s disease and to guide their treatment plans. The purpose of this study was to examine the reliability of portable FEV1 values in comparison to hospital FEV1 values in order to explore novel approaches for remote CF monitoring during the SARS CoV-2 pandemic. METHODS: Funding from the Cystic Fibrosis Foundation and VCU Adult CF Center was used to provide patients with a ZEPHYRx home spirometry kit. Patients were provided instructional materials and were coached on how to use and maintain the device by dedicated respiratory therapists (RT). FEV1 values were reported through the ZEPHYRx Breathe Easy mobile app and these values were tracked from May 2020 to April 2021. The number of times these values fell at or above 90% of the patients’ best hospital FEV1 in the last 12 months was calculated as a percentage. The ZEYPHRx home spirometry values were deemed reliable if the percentage was ≥ 50%. RESULTS: The ZEPHYRx home spirometry kit provided reliable FEV1 values for 81% of the 48 patients who used the device. Compliance rate of the total 64 patients who received the home spirometry kit was 75%. The non-compliant patients were omitted from the final calculation. CONCLUSIONS: In conclusion, the study was successful in determining the reliability of utilizing ZEPHYRx home spirometry kits. The results of this study will expand the scope and efficacy of telehealth for the care of CF patients. CLINICAL IMPLICATIONS: Future studies can analyze the use of the kits in a longitudinal fashion to normalize their use in CF patient care. Including home spirometry kits as part of routine CF care will minimize patients’ visits to the clinic and therefore exposure to pathogens. DISCLOSURES: No relevant relationships by Madihah Alam, source=Web Response No relevant relationships by Sarah Barrett, source=Web Response Advisory Committee Member relationship with PARI Please note: 2019 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Honoraria Moderator relationship with PARI Please note: 2021 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Consulting fee Advisory Committee Member relationship with DYMEDSO Please note: 2021 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Consulting fee No relevant relationships by Karen Lo, source=Web Response

IMPACT OF MAIL-IN SPUTUM CULTURES IN DELIVERY OF CYSTIC FIBROSIS CARE VIA TELEHEALTH

TOPIC: Education, Research, and Quality Improvement TYPE: Original Investigations PURPOSE: Cystic fibrosis (CF) is a multi-organ disease due to a mutation in the cystic fibrosis transmembrane conductance regulator gene. The mutation causes viscous mucus to accumulate in vital organs including the lungs. The thick mucus layers serve as sites of infection which are a significant cause of morbidity and mortality in CF patients. Sputum samples assess the types of pathogens that colonize CF patients’ lungs and can be used to guide treatment. Prior to the COVID-19 pandemic, sputum cultures were almost exclusively collected in the clinical setting. The purpose of this study was to examine the effectiveness of at-home collection of sputum samples. Specifically, we aimed to see if mail-in sputum samples can replace samples collected in clinic, thereby increasing accessibility of remote CF care. METHODS: Adult and pediatric patients were provided a mail-in sputum kit from the clinic along with instructions on collecting and shipping samples. Kits were completed by 7 adult and 32 pediatric patients from March 2020 to April 2021. The samples were shipped via FedEx to the microbiology lab for processing. The results were then compared with those of the patients’ previous hospital cultures from 2017-2020 for pediatrics and 2019-2020 for adults for reliability. The mail-in cultures were considered reliable if the patients’ previous in-clinic sputum samples had grown at least 50% of the same pathogens grown from the mail-in sample. RESULTS: Mail-in samples were reliable for 85.7% of the adult patients and 92.9% of the pediatric patients. Four pediatric patients were excluded from the study because they had not completed an in-hospital sputum sample. CONCLUSIONS: Given that the pathogens between adult and pediatric cultures were reliable 85.7% and 92.9% of the time respectively, mail-in sputum cultures appear to be an effective form of remote maintenance care in CF patients. Implementing mail-in culture protocols can expand the efficacy of telehealth in routine CF patient care. CLINICAL IMPLICATIONS: Future studies should look at optimizing patient education on mail-in sputum collection to facilitate ease of access. The usage of mail-in cultures can minimize the need for CF patients to come into the hospital for testing and in-clinic visits. DISCLOSURES: No relevant relationships by Madihah Alam, source=Web Response No relevant relationships by Sarah Barrett, source=Web Response Advisory Committee Member relationship with PARI Please note: 2019 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Honoraria Moderator relationship with PARI Please note: 2021 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Consulting fee Advisory Committee Member relationship with DYMEDSO Please note: 2021 Added 04/14/2021 by Nauman Chaudary, source=Web Response, value=Consulting fee No relevant relationships by Karen Lo, source=Web Response

Effects of Osteopathic Manipulation and Other Manual Manipulative Treatments on Cystic Fibrosis

Abstract Context: Cystic fibrosis (CF) is a genetic disease that affects multiple organ systems, and symptoms include chronic cough, gastrointestinal (GI) malabsorption, exercise intolerance, and chronic pain. Examples of standard treatments are nebulizers, supplementary enzymes, chest percussive therapy, respiratory therapy, and lifestyle modifications. Objective: The purpose of the current review was to determine whether manual therapies, such as osteopathic manipulative treatment (OMT), in conjunction with standard treatments, provide symptom relief for patients with CF. Methods: PubMed was searched to identify studies investigating the role of manual medicine in the care of CF patients. Search terms included chiropractic, physical therapy, physiotherapy, osteopathic, manipulation, massage, and manual medicine. All terms were searched in combination with cystic fibrosis. Studies investigating only exercise or chest percussive therapy as adjunctive treatments were excluded. Results: Eight studies were found that investigated manual therapies alone or in conjunction with exercise for treatment of CF symptoms. All studies reported improvement after manual therapy in 1 or more symptoms, such as posture, GI symptoms, peak airflow, anxiety, back or chest pain, or breathing. Study types included a case study, prospective observational studies, and randomized controlled trials. Most studies were small and statistically underpowered. In an inpatient/outpatient observational study of adults with CF, patients reported a significant reduction in pain after a single physiotherapy treatment, and inpatients also reported significantly improved breathing after treatment. In a randomized controlled trial involving adult CF outpatients, there was a significant improvement in chest and back pain scores between the OMT and control groups. Conclusions: Results of the current review suggested patients with CF can experience symptom relief after OMT and similar manual therapies. Patients subjectively reported improvement with manual therapies, and studies found statistically significant decreases in pain after a single treatment. However, larger studies with sufficient statistical power are needed to further define the role of manual therapies as adjunctive treatment for symptom relief in CF patients.

Comparison of Surrogate Parameters between CF-Patients in Frankfurt and Moscow (1990-2015)

Previous studies have demonstrated that CF prognosis is dependent of three major parameters: FEV1, BMI and need of intravenous antibiotic therapy. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. We decided to investigate and compare both centers from 1990 to 2015. No comparable study has been published so far.

Airway Clearance Therapy in Cystic Fibrosis Patients Insights from a Clinician Providing Cystic Fibrosis Care.

Cystic fibrosis (CF) is a genetic disease characterized by an accumulation of thick layers of mucus, leading to airway obstruction and air trapping. Poorly cleared mucus leads to frequent respiratory infections that produce chronic cough and dyspnea. The presence of infected mucus induces progressive inflammation. The resulting damage anatomically distorts airways leading to development of bronchiectasis. Bronchiectasis is irreversible and results in progressive respiratory function decline over time. Impaired mucociliary clearance together with tenacious mucus makes expectoration with cough alone problematic. Clinicians providing effective care for CF patients must have knowledge of the wide variety of treatment options currently available. Knowledge of these techniques will enable clinicians to prescribe airway clearance therapy (ACT) where necessary and provide treating physicians the ability to adapt to changing patient treatments as necessary. Training programs frequently do not provide in-depth knowledge of ACT technologies in CF patients resulting in knowledge gaps once physicians are in practice. This paper reviews strategies for ACT. It is specifically targeted for clinicians who frequently provide care for patients with CF.

Comparison of Surrogate Parameters between Cystic Fibrosis (CF) Patients in Frankfurt and Moscow during 1990-2015

Background: Previous studies have demonstrated that CF (Cystic Fibrosis) prognosis is dependent of three major parameters: FEV1 (Forced Expiratory Pressure in one second), BMI (Body Mass Index) and need of intravenous antibiotic therapy. The CF centres of Frankfurt, Germany, and Moscow, Russia, care for cystic fibrosis patients. We decided to investigate and compare both centers from 1990 to 2015. No comparable study has been published so far. Method: German patient data was collected from the national cystic fibrosis database “Muko.web”. Missing values were extracted from the Hospital Information System. Russian patient data were taken directly from the medical records in Moscow. In a descriptive statistical analysis with Bias and R Studio the values were compared. Result: A total of 428 patients from Moscow (217 male, 211 female; 348 (81,3%) were P. aeruginosa positive) and 159 patients from Frankfurt (92 male, 67 female; 137 (86,2%) with P. aeruginosa positive) were compared with regard to P. aeruginosa positivity, BMI, FEV1 and need of intravenous antibiotic therapy. CF patients in Moscow stratified by age groups had lower BMI than CF patients in Frankfurt (age 16-18: p=0,003; age 19-22: p=0,004; age 23-29: p<0,001; age 30-35: p<0,001; age 36-66: p=0,024). In a matching pairs analysis including 100 patients from Frankfurt and 100 patients from Moscow for the year 2015 FEV1 was significantly lower in Moscow patients (p<0,001). Conclusion: BMI, FEV1 and need of intravenous therapy have significant impact on survival and on quality of life of CF patients. A lower BMI and a lower FEV1 result in a worse survival and determine the prognosis. This study showed a significant difference in prognostic parameters between Frankfurt and Moscow in the crosssectional analysis for the year 2015. A further study should evaluate this difference to show whether this difference will be found over a longer period of time.

P081 30 years of organisation of care for cystic fibrosis patients in the Russian Federation

P081 30 years of organisation of care for cystic fibrosis patients in the Russian Federation

P219 Before and during the COVID-19 pandemic: a review of health of our paediatric cystic fibrosis patients

Objective: To explore the impact of the COVID-19 pandemic on our cystic fibrosis (CF) patients’ health. Method: A retrospective review of data for 20 paediatric CF patients between 01/03/2020 to 30/11/2020 compared with 01/03/2019 to 30/11/2019. This included: • Days requiring intravenous antibiotics (IVAB) • Course of oral antibiotics (abx) • Routine vs acute IVAB • Chest x-ray (CXR) Northern score • Lung function tests (LFT) • Body mass index (BMI) • COVID-19 antibody test • Acute presentations Results: Oral abx courses for exacerbations or positive cultures decreased from 29 to 14;total IVAB days decreased from 177 to 107. Patients requiring rescue IVAB was the same (2). Of 19 patients had CXR done, score was unchanged in 8, reduced in 5 and increased in 6. 5 patients (under 6 years) did not complete LFTs, no data for 4 patients due to phone appointments, 10 patients FEV1 remained stable and 1 patient's FEV1 decreased by 8%. 15/20 patients had stable or improved BMI and 3 had decreased BMI. 17 patients had COVID-19 antibody tests. Only 1 tested positive. Number of acute presentations halved to 5 in 2020 compared to 10 in 2019. Conclusion: While our ability to deliver care for CF patients was significantly impacted due to redeployment and service reconfiguration, we succeeded in completing annual review investigations for our 20 patients, which also included COVID-19 antibody testing. Overall, our patients remained in good health as evidenced by decreased acute presentations, reduced need for abx therapy, stable radiology, lung functions and BMI. This could be due to patient shielding, reducing exposure to potential bacteria and viruses, and access to CF care remaining available. The introduction of NuvoAir in 2020 allowed us to remotely monitor LFTs and weight and respond to changes promptly. However, this is relying on patient technique and accuracy of measurements. The forced reconfiguration of services does not appear to have had an impact on patient health.

THE CORRELATION BETWEEN DEXA SCAN SCORES AND VITAMIN D LEVELS IN ADULTS WITH CYSTIC FIBROSIS

SESSION TITLE: Genetic and Developmental Disorders Posters SESSION TYPE: Original Investigation Posters PRESENTED ON: October 18-21, 2020 PURPOSE: In this retrospective chart review, the goal of the project was to determine if a correlation can be established between DEXA scan scores and Vitamin D levels in adults who have been diagnosed with cystic fibrosis. This study takes a variety of factors into account when trying to decipher if such correlation exists, including lifestyle, medical history, ethnicity, nutrition, etc. METHODS: Variables analyzed in the study include sex, age, BMI, CF genes, gene severity, CF modulators, PFT/EV1, sweat chloride, Vitamin D2 (ergocalciferol) levels, DEXA scan Z-score, time of DEXA scan, DEXA scan T-score, Vitamin D supplements and ethnicity. The densitometries were performed on the same machine. The data consisted of 23 males and 21 females, and the mean age was 37.7 years old, with a range of 22 to 57. Pulmonary function test (PFT) was used in conjunction with FEV1, the latter being a marker for cystic fibrosis and the former often used as a marker for a variety of pulmonary diseases including asthma, chronic obstructive pulmonary disorder, etc. The DEXA scan Z-score was taken from the lumbar spine of each patient. RESULTS: The correlation coefficient was determined to be -0.1491, which is indicative of a weak negative relationship between Vitamin D levels and DEXA scan scores. The P-value was calculated as 0.358221 and was deemed insignificant, therefore rejecting our null hypothesis. Analysis of the variables resulted in a mean Vitamin D level of 36.0 ng/mL and a mean DEXA Z-score of -1.2. The most common mutation observed was the F508del mutation. Patients can have two different mutations that cause cystic fibrosis including but not limited to N1303K, R1162X, G551D, L647P, 2185insA, etc. CONCLUSIONS: The correlation coefficient and P-value indicate that there is not a direct linear relationship between Vitamin D levels and DEXA scan scores in cystic fibrosis patients, hence rejecting our hypothesis that there is a direct linear relationship between the two respective variables. The results also confirmed that Vitamin D deficiency is not the only cause of decreased bone densitometry in CF patients. A larger sample size could have been obtained and more data could have been analyzed if access to the Cerner EHR was granted at an earlier time. In retrospect, perhaps other variables should have been focused on instead of Vitamin D levels and DEXA scans. Potential limitations in this study include difficulty obtaining access to the Cerner EHR and delay in obtaining a Vitamin D test after DEXA scan. CLINICAL IMPLICATIONS: This retrospective chart review has provided more insight in regard to various factors which may be correlated. Establishing a correlation between these factors may improve the quality of life and treatment of cystic fibrosis patients. Other variables which should be tested include sweat chloride levels and PFT results, as both vital in establishing care for cystic fibrosis patients. DISCLOSURES: No relevant relationships by Raufay Abbasi, source=Web Response Advisory Committee Member relationship with PARI Please note: $1001 - $5000 Added 03/31/2020 by Nauman Chaudary, source=Web Response, value=Consulting fee Advisory Committee Member relationship with Novartis Please note: $1001 - $5000 Added 03/31/2020 by Nauman Chaudary, source=Web Response, value=Consulting fee No relevant relationships by Mannal Rahman, source=Web Response No relevant relationships by Moazan Rehman, source=Web Response

Impact of pharmacy technicians as part of an integrated health-system pharmacy team on improvement of medication access in the care of cystic fibrosis patients.

Cystic fibrosis (CF) is a genetic disease requiring patients to take multiple medications per day. Multiple barriers exist affecting access and adherence. Studies have demonstrated the positive outcomes of pharmacist involvement in CF care. The purpose of this study is to characterize the impact of pharmacy technicians on medication access in the care of CF patients. A retrospective review and analysis of patient medication profiles for patients followed by the integrated pharmacy care process model was performed. Two electronic prescription pathways with pharmacy technician involvement were analyzed. One pathway using a specialty pharmacy CF pharmacy technician (SP technician) examined CF specialty medication delivery times. The other pathway examined the impact of the clinic-based CF pharmacy technician (CB technician) on the number of filling pharmacies for patients. One-hundred and fifty-three patients met inclusion criteria in the CF specialty medication delivery analysis, and 56 patients met inclusion criteria filling pharmacy analysis. The median delivery time for dornase alfa decreased from 8 days to 3 days, p < .00001. The number of patients utilizing one filling pharmacy increased from 8 (14%) to 21 (38%)(p = .005); and utilizing three filling pharmacies decreased from 14 (25%) to 1 (2%)(p = .003). The study demonstrated that pharmacy technicians as part of an integrated health-system pharmacy care process model improve medication access in the care of CF patients.

Easy measurement of health related quality of life in patients with cystic fibrosis by the COPD assessment test (CAT) - A pilot study.

Quality of life (QOL) is an important patient-related outcome (PRO) in patients with cystic fibrosis (CF). There are several QOL questionnaires like the "Cystic Fibrosis Questionnaire Revised" (CFQ-R) or the "St George's Respiratory Questionnaire" (SGRQ) that are well validated in CF. The aim of the study was to evaluate whether the easily applicable "COPD assessment test" (CAT) can be used in CF patients. 42 CF patients were recruited within the PulmoHOM study, a prospective, observational cohort study. The CAT, the SGRQ and the CFQ-R were handed out to the patients. The spearman's rank correlation coefficient and the Cronbach's α coefficient were used for the statistical analysis. The internal consistencies of the CAT, SGRQ and the CFQ-R were high (Cronbach's α coefficients=0.89, 0.91 and 0.83). There were significant correlations between the CAT and the total score of the SGRQ (r=0.851, p<0.01), between the CAT and many items of the CFQ-R (physical score of the CFQ-R and total score of the CAT: r=-0.872, p<0.01) and between the SGRQ and the CFQ-R (physical score of the CFQ-R and total score of the SGRQ: r=-0.878, p<0.01). The main finding was the high correlation between the CAT and the validated questionnaires in CF. The CAT is a PRO instrument that can be filled quickly and that correlates well with the CFQ-R. The CAT or similar tools might be applicable in the care of CF patients.

Cystic fibrosis - an example of personalized and precision medicine.

Cystic fibrosis (CF) is a severe, monogenic, autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane regulator) gene, where disturbed chloride and bicarbonate transportation in epithelial cells results in a multiorgan disease with primarily pulmonary infections and pancreatic insufficiency. In 1968, the Copenhagen CF Center was established, and centralized care of CF patients with monthly control was introduced. Close monitoring and treatment of Pseudomonas lung infection as well as segregation of patients with different infection status improved the clinical outcome as well as survival. Prophylactic basic treatment as well as infection treatments follow specific algorithms. A variety of comorbidities have all along the pulmonary infection control necessitated personalized care, adjusted to the patients' phenotype. With the introduction of CFTR modulators, the treatment has shifted from prophylactic, symptomatic type toward a new era of precision medicine targeting the basic defect according to the patients' CFTR genotype. Future directions will focus on further improvement of the CFTR modulators and gene therapy, as well as modifier genes and CF phenotype.

The dynamics of some health indicators in adult patients with cystic fibrosis, observed in the research institute of pulmonology in 2003-2018

Background: Evaluation of the main clinical and functional indicators and their relationship with the treatment and diagnostic care at different time periods can contribute to the development of further effective medical strategies and globally lead to improved care for cystic fibrosis patients.&#x0D; Aim: An assessment of the dynamics of some clinical and functional indicators in adult CF patients, who have been observed ed Research Institute of Pulmonology during the last 15 years(2003–2018).&#x0D; Methods: The comparative analysis was performed on the data of adult patients with cystic fibrosis, observed at 31.12.2003 and at the end of October of 2018. The group of patients in 2003 consists of 80 and in 2018 — of 667 patients. The comparative analysis between the groups was carried out according to the following indicators: age, survival, lung function, nutritional status, proportion of infection with pathogenic microflora, identification of mutations in the cystic fibrosis gene and diagnosis in adult patients.&#x0D; Results: An increase in patient’s age, survival rate, the proportion of identified mutations in cystic fibrosis gene and infection of Burkholderia cepacia complex in the group of patients in 2018 was revealed. There were no differences in the state of lung function, nutritional status, the ratio of the living and dead patients and proportion of patients diagnosed in adulthood between groups.&#x0D; Conclusion: The progress in the treatment through the introduction of modern methods and therapeutic programs leads to improved survival and an increase in the number of adult patients with cystic fibrosis.

SLC26A9 Gene Is Associated With Lung Function Response to Ivacaftor in Patients With Cystic Fibrosis.

Ivacaftor is a drug used to treat cystic fibrosis (CF) patients carrying specific gating CFTR mutations. Interpatient variability in the lung response has been shown to be partly explained by rs7512462 in the Solute Carrier Family 26 Member 9 (SLC26A9) gene. In an independent and larger cohort, we aimed to evaluate whether SLC26A9 variants contribute to the variability of the lung phenotype and if they influence the lung response to ivacaftor. We genotyped the French CF Gene Modifier Study cohort (n = 4,840) to investigate whether SLC26A9 variants were involved in the lung phenotype heterogeneity. Their influence in the response to ivacaftor was tested in the 30 treated patients who met the inclusion criteria: older than 6 years of age, percent-predicted forced expiratory volume measured in 1 s (FEV1pp) in the 3 months before treatment initiation ranging between 40 and 90%. Response to treatment was determined by the change in FEV1pp from baseline, averaged in 15–75 days, and the 1st-year post-treatment. We observed that SLC26A9 variants were not associated with lung function variability in untreated patients and that gain of lung function in patients treated with ivacaftor was similar to clinical trials. We confirmed that rs7512462 was associated with variability in ivacaftor-lung response, with a significant reduction in lung function improvement for patients with the C allele. Other SLC26A9 SNPs also contributed to the ivacaftor-response. Interindividual variability in lung response to ivacaftor is associated with SLC26A9 variants in French CF patients. Pharmacogenomics and personalized medicine will soon be part of CF patient care.

Italian Cystic Fibrosis Registry. Report 2011-2014

Italian Cystic Fibrosis Registry. Report 2011-2014