Cystic Fibrosis Care Centers Research Articles

Cystic fibrosis foundation position paper: Redefining the cystic fibrosis care team.

Interdisciplinary teams care for people with cystic fibrosis (pwCF) at specialized treatment centers. These teams have laid the foundation for the cystic fibrosis (CF) care model responsible for gains in health outcomes and quality of life within the CF community. However, the landscape of CF care is transforming, invigorated by new technologies, accessibility of cystic fibrosis transmembrane conductance regulator (CFTR) therapies, and increased utilization of telemedicine. In light of these advances, it is appropriate to re-evaluate the CF care team structure. This position paper offers guidance for the structure of a CF care center designed to meet the evolving needs of the CF community. Fundamental to the proposed center structure is recognition of pwCF and their families as integral members of their care teams, underpinning the necessity for shared decision making, awareness of social determinants of health, and active partnership between all healthcare professionals involved in the care of pwCF.

A Survey of Cystic Fibrosis Center Recommendations for Nebulizer Cleaning and Disinfection.

Despite advancements in cystic fibrosis (CF) therapeutics, the persistence of chronic infections necessitates continued use of nebulized therapies. Though the Cystic Fibrosis Foundation recommends well-defined cleaning and disinfection of nebulizers to mitigate pathogen exposure risks, discrepancies between Cystic Fibrosis Foundation guidelines, manufacturers' instructions, and variability in center recommendations contribute to confusion and non-standardized practices. A digital survey was distributed to directors, associate directors, and care coordinators of CF centers across the United States to investigate the methods, frequency, and educational practices surrounding nebulizer care they provide patients. Responses were analyzed using descriptive techniques and chi-square analyses. Of 855 distributed surveys, 129 respondents provided insights into nebulizer care recommendations. Discrepancies in disinfection frequency were notable, with 18% of respondents recommending disinfecting nebulizers less than daily. Approximately 20% of respondents were unsure if their recommendations aligned with Cystic Fibrosis Foundation guidelines while 73% reported that their recommendations strictly adhered to the published guidelines. Of this 73%, all recommended at least daily cleaning, with 69% specifying cleaning before reuse; and 88% recommended disinfection at least daily, with 36% specifying disinfection before reuse. Only 10% recommended both cleaning and disinfection after every use. Disinfection less than daily was recommended by 11% of the respondents who felt they were strictly following the guidelines. We also highlight respondents who cited barriers to strict adhesion to the published guidelines. The highlighted variations in CF centers' recommendations for nebulizer care with deviations from Cystic Fibrosis Foundation guidelines underscore the necessity for developing clear and practical guidelines that consider both efficacy and the realities of patient adherence. Collaboration among CF care centers, patients, guideline committees, and other stakeholders is essential to develop recommendations that effectively address the challenges faced by the CF community, ensuring the safe and effective nebulizer use.

Clinical outcomes at 9-10 years of age in children born with cystic fibrosis transmembrane conductance regulator related metabolic syndrome.

There are limited data on cystic fibrosis (CF) transmembrane conductance regulator-related metabolic syndrome (CRMS) outcomes beyond infancy. The goal of this study was to analyze outcomes of infants with CRMS up to the age of 9-10 years using the CF Foundation Patient Registry (CFFPR). We analyzed data from the CFFPR for individuals with CF and CRMS born between 2010 and 2020. We classified all patients based on the clinical diagnosis reported by the CF care center and the diagnosis using CFF guideline definitions for CF and CRMS, classifying children into groups based on agreement between clinical report and guideline criteria. Descriptive statistics for the cohort were calculated for demographics, nutritional outcomes, and microbiology for the first year of life and lung function and growth outcomes were summarized for ages 6-10 years. From 2010 to 2020, there were 8765 children with diagnosis of CF or CRMS entered into the CFFPR with sufficient diagnostic data for classification, of which 7591 children had a clinical diagnosis of CF and 1174 had a clinical diagnosis of CRMS. CRMS patients exhibited normal nutritional indices and pulmonary function up to age 9-10 years. The presence of respiratory bacteria associated with CF, such as Pseudomonas aeruginosa from CRMS patients ranged from 2.1% to 9.1% after the first year of life. Children with CRMS demonstrate normal pulmonary and nutritional outcomes into school age. However, a small percentage of children continue to culture CF-associated respiratory pathogens after infancy.

A national postgraduate nurse practitioner and physician assistant fellowship in cystic fibrosis: An innovative approach to the provider shortage in complex and rare disease.

Cystic fibrosis (CF) is a complex life-limiting genetic condition that affects the respiratory, digestive, reproductive system, and sweat glands. Advances in treatment have led to improved survival and quality of life. Today, most persons with CF live to adulthood but require highly specialized care at accredited CF Care Centers. The growing and aging CF population combined with the provider workforce shortage have increased the demand for qualified CF providers. Nurse practitioners (NPs) and physician assistants (PAs) have been providing CF care for decades, but most learned on the job. The Leadership and Education for Advanced Practice Provider (LEAPP) fellowship in CF care aims to address the provider gap, ease transition to practice, and ensure access to specialized care. Unlike other institutional based joint NP/PA fellowships, LEAPP was designed to train providers at various locations across the national CF care center network. The program is innovative in several ways: (1) LEAPP employs a flipped classroom that pairs an online curriculum with case-based virtual discussion with content experts from the CF care network; (2) fellows receive mentored clinical training at their home CF center; (3) LEAPP partnered with a university-based team to ensure best practices and evaluation for adult learners; and (4) LEAPP promotes organizational enculturation through program components of professional mentoring, quality improvement, and leadership. This innovative approach may be suitable for other complex conditions that require highly specialized care, such as sickle cell disease, spina bifida, and solid organ transplant.

Clinical Observations in Patients With Cystic Fibrosis-Related Diabetes and Self-Reported Ototoxicity Symptoms.

Persons with cystic fibrosis (PwCF) are at high risk for ototoxicity due to the routine use of intravenous aminoglycoside (IV-AG) antibiotics in respiratory infection management. Additionally, factors that contribute to ototoxicity-related symptom development and severity in PwCF are unknown. Given the increased risk of ototoxicity in people with diabetes, we explored the association between cystic fibrosis-related diabetes (CFRD) and self-reported ototoxicity symptoms (tinnitus and vestibular problems) in PwCF treated with aminoglycosides. PwCF (N = 39; 25 females, 14 males; Mage = 30.1 years, SD = 10.3) were recruited from the Cystic Fibrosis Care Center at Oregon Health & Science University. Patients completed the validated questionnaires to ascertain their experiences with ototoxicity-related symptoms of tinnitus and balance function. The diagnosis of CFRD, including oral glucose tolerance testing (OGTT), insulin treatment, hemoglobin A1c, and cumulative IV-AG treatment history, was obtained through a medical chart review. Participants were classified into three groups based on their medical diagnoses via OGTT: normal glucose tolerance (NGT; control; n = 16), abnormal glucose tolerance (AGT; n = 9), and CFRD (n = 14). Participants in each group were further classified based on survey outcomes for ototoxicity-related symptoms. There was a trend toward a higher proportion of patients with CFRD reporting tinnitus compared to the AGT and NGT groups, but did not meet statistical significance (X2 = 2.24, p = .13). Approximately, 43% of patients with CFRD reported experiencing clinically significant tinnitus lasting > 3 min compared to 11% in the AGT group and 13% in the NGT group (X2 = 3.751, p = .05). Cumulative IV-AG exposure tended to be higher in CFRD compared to other groups. High balance function was generally reported in all groups. Patients with CFRD have greater ototoxicity-related symptoms. Further investigation of the relationship between CF-related comorbidities and the risk of developing ototoxicity-related symptoms is warranted to improve the detection and management of ototoxicity in PwCF.

651 Research to clinical care: understanding implementation of the daily care check-in in cystic fibrosis care centers

651 Research to clinical care: understanding implementation of the daily care check-in in cystic fibrosis care centers

The modern landscape of fertility, pregnancy, and parenthood in people with cystic fibrosis.

With improved long-term survival and the expanding availability of cystic fibrosis transmembrane conductance regulator (CFTR) modulator therapies that treat the underlying genetic defect in cystic fibrosis, more people are interested in parenthood. Cystic fibrosis care centers and people with cystic fibrosis need more information to guide decisions related to parenting. Here we present currently available data on fertility, pregnancy, and parenthood in the modern era of cystic fibrosis care. Fertility may be improving in female individuals with cystic fibrosis with the use of CFTR modulator therapies, and there is an associated increase in annual pregnancies. Infertility in male individuals with cystic fibrosis remains approximately 97-98% and is unchanged with CFTR modulators in those already born with cystic fibrosis. As more female individuals with cystic fibrosis experience pregnancy, questions remain about the impact of pregnancy on their health and that of their child. Fortunately, there are multiple routes to becoming a parent; however, more work is needed to understand the impact of pregnancy and parenthood in the context of CF as some previous data suggests potential challenges to the health of parents with cystic fibrosis. We encourage cystic fibrosis care teams to have knowledge and resources available to support the reproductive goals of all individuals with cystic fibrosis.

Patient Attitudes Regarding Health Care Clinician Communication in Adolescents with Cystic Fibrosis.

The quality of health care clinician (HCC) communication varies, yet few studies evaluate ways to improve communication among adolescents with cystic fibrosis (CF). We sought to characterize the attitudes of adolescents and young adults (AYA) with CF about HCC communication and describe the components important for high-quality communication. AYA with CF aged 12-20 years from a single large pediatric CF care center participated in a brief survey and semi-structured individual and group virtual interviews that were recorded, transcribed, coded and analyzed with a combined deductive and inducive approach. Discrepancies were resolved by consensus. Among the 39 survey respondents, most were white (77%), male (51%), and averaged 15.51 years (range 12 - 20 years). Many (40%) perceived their health status as "neutral" and over half (61%) were "very satisfied" with HCC communication. Overall, among the 17 interviews (averaged 53.6 minutes, range 31.5-74 min), participants reported a desire to be actively engaged in discussions about their health and included in the decision-making process with HCC to support adolescent autonomy and cultivate trust. Some factors detract (loss of control and fear of diagnosis), and others strengthen (transition to adult care and external motivators) adolescent autonomy. Some factors detract (perceived lack of interdisciplinary communication, statements of non-compliance, and being compared to others) and others strengthen (inherent trust and familiarity over time) the cultivation of trust. The development of adolescent autonomy and the cultivation and maintenance of trust between the patient and HCC are two essential components of quality communication that should inform future communication-focused interventions.

Complications and Practice Variation in the Use of Peripherally Inserted Central Venous Catheters in People With Cystic Fibrosis: The Prospective Study of Peripherally Inserted Venous Catheters in People With Cystic Fibrosis Study

Peripherally inserted central catheters (PICCs) are used commonly to administer antibiotics to people with cystic fibrosis (CF), but their use can be complicated by venous thrombosis and catheter occlusion. Which participant-, catheter-, and catheter management-level attributes are associated with increased risk of complications of PICCs among people with CF? This was a prospective observational study of adults and children with CF who received PICCs at 10 CF care centers in the United States. The primary end point was defined as occlusion of the catheter resulting in unplanned removal, symptomatic venous thrombosis in the extremity containing the catheter, or both. Three categories of composite secondary outcomes were identified: difficult line placement, local soft tissue or skin reactions, and catheter malfunction. Data specific to the participant, catheter placement, and catheter management were collected in a centralized database. Risk factors for primary and secondary outcomes were analyzed by multivariate logistic regression. Between June 2018 and July 2021, 157 adults and 103 children older than 6 years with CF had 375 PICCs placed. Patients underwent 4,828 catheter-days of observation. Of the 375 PICCs, 334 (89%) were≤ 4.5 F, 342 (91%) were single lumen, and 366 (98%) were placed using ultrasound guidance. The primary outcome occurred in 15 PICCs for an event rate of 3.11 per 1,000 catheter-days. No cases of catheter-related bloodstream infection occurred. Other secondary outcomes developed in 147 of 375 catheters (39%). Despite evidence of practice variation, no risk factors for the primary outcome and few risk factors for secondary outcomes were identified. This study affirmed the safety of contemporary approaches to inserting and using PICCs in people with CF. Given the low rate of complications in this study, observations may reflect a widespread shift to selecting smaller-diameter PICCs and using ultrasound to guide their placement.

Airway clearance therapy in the school environment: Retrospective analysis of a cohort of pediatric patients with cystic fibrosis

BackgroundAdherence to airway clearance therapy (ACT) in pediatric cystic fibrosis (CF) patients is reported to be below 50% and inability to sustain daily care is linked to poor health outcomes7,8,9. Through a collaboration between a CF care center and several schools, we hypothesized that ACT completed at school by pediatric CF patients will improve lung function while decreasing pulmonary exacerbations (PEx), days of antibiotics (abx) and hospitalizations. MethodsThis was a retrospective case-control study at a single CF care center consisting of 50 CF patients age < 18 at time when data was recorded (2012–2020). The case group used high-frequency chest wall oscillation or positive expiratory pressure devices at school for at least 1 year after self-reported or physician identified inadequate use at home. Lung function and measures of healthcare utilization were collected. ResultsIn the case group (n = 14), paired t-tests showed that after initiation of ACT at school, there were significant reductions in PEx requiring IV or PO abx (P = 0.010), total days of abx (P = 0.032), and visits to the CF care center (P = 0.037). There was no change in these outcomes in the matched control group (n = 36). ConclusionsThis is the first known study to highlight an initiative between a CF care center and schools which utilized airway clearance devices at school to ensure pediatric CF patients completed ACT. Through increased adherence, this relationship was associated with improved health outcomes. Use of alternative strategies may help patients with CF sustain adequate airway clearance.

Time to man up: Increased risk of testicular cancer among boys with cystic fibrosis

Epidemiologic studies have identified an increased risk of certain malignancies among people with cystic fibrosis. Testicular cancer is one of these malignancies. Potential explanations for this observation include primary effects of the cystic fibrosis transmembrane conductance regulator gene or protein on tissue versus secondary effects which are caused by abnormal anatomy and physiology. Two cases of testicular cancer among adolescent boys receiving care at the same cystic fibrosis care center are presented. Current U.S. Preventive Services Task Force guidelines recommend against routinely screening, medical or self-examination, for testicular cancer among adolescent or adult males. Given the increased risk of testicular cancer among boys and men with cystic fibrosis, this recommendation must be reassessed. As part of its recent focus on reproductive health, the cystic fibrosis care community should, at minimum, develop age-appropriate education resources for adolescent and adult males with cystic fibrosis.

Patient care in cystic fibrosis centers: a real-world analysis in Brazil.

To analyze the characteristics of cystic fibrosis (CF) care centers (CFCCs) in Brazil. A questionnaire was sent to the coordinators of all 51 registered CFCCs between May and September of 2021. The response rate was 100%. Southeastern Brazil is the region where most of the CFCCs in the country are located (21 centers; 41%), followed by the southern and northeastern regions (11 centers each; 21.5%), the central-western region (6; 12%), and the northern region (2; 4%). A total of 4,371 patients with CF were cared for in Brazil during the study period, ranging from 7 to 240 patients per center (mean, 86 patients/center; median, 75 patients/center); 2,197 patients (50%) were cared for in centers in the southeastern region of the country, particularly in the state of São Paulo (33%), the remaining patients being treated in southern Brazil (1,014 patients, 23%), northeastern Brazil (665 patients, 15%), central-western Brazil (354 patients, 8%), and northern Brazil (141 patients, 4%). Overall, 47 centers (92%) reported having an incomplete multidisciplinary team; 4 (8%) lacked essential team members; 6 (12%) lacked a physical therapist; 5 (10%) lacked a dietitian; 17 (33%) lacked outpatient nursing care; 13 (25%) lacked outpatient social work services; 14 (27%) lacked a psychologist; and 32 (63%) lacked a clinical pharmacist. Seven CFCCs (14%) in the northern and northeastern regions of Brazil reported that the quality of newborn screening for CF was poor. All centers reported having difficulties in accessing CF medications. Brazilian CFCCs experience multiple problems, including inadequate staffing, infrastructure, testing, and medication supply. There is an urgent need to regulate the implementation of CF referral centers and an appropriate network structure for the diagnosis and follow-up of CF patients using optimal treatment recommendations.

Perceptions of caregivers and adolescents/young adults with cystic fibrosis regarding health care transition readiness during the COVID-19 pandemic: A qualitative study

PurposeMedical advances have increased the life expectancy of adolescents and young adults (AYA) with cystic fibrosis (CF) and importance of high-quality health care transitions (HCT) from pediatric-to-adult focused health care. The purpose of this study was to describe perceptions of HCT readiness among caregivers and AYA with CF during the COVID-19 pandemic. Design and methodsUsing a qualitative descriptive design, caregivers and AYA aged 12–21 years old were recruited from three large CF care centers across the eastern U.S. Data were collected using an online questionnaire with open ended and closed ended questions. Survey topics were: perceptions of HCT readiness, actions to prepare for HCT, and the impact of COVID-19. Results were interpreted using an adapted framework of the Health Care Transition Research Consortium Model and qualitative content analysis. ResultsThe sample included 73 caregivers (62 mothers) and 34 AYA (24 female, mean age 15.5 years). Three attributes of HCT readiness were identified from caregiver and AYA perceptions: (1) strong concerns that AYA lacked readiness to manage self-care needs in the future, (2) gaps in resources hindered ongoing efforts to enhance transition readiness, and (3) COVID changes created new barriers and facilitators to health care transition readiness. ConclusionsCaregivers and AYA felt they lacked readiness for HCT, they worried about worsening outcomes in adult-focused care, and they were challenged by the onset of the COVID-19 pandemic. Practical implicationsThese findings provide a solid description of perceived transition readiness during a pandemic that may enhance transitional care design.

Serum levels of hormones regulating appetite in patients with cystic fibrosis − a single-center, cross-sectional study

Cystic fibrosis (CF), which is the most common inherited genetically determined disease caused by a mutation in the gene for the CF transmembrane conductance regulator protein. Pulmonary failure is the leading cause of death in this population, while the dysregulation of endocrine system creates significant disorders, including malnutrition, underweight, and CF-related diabetes. Therefore, the objective of our study was to determine the following hormones in the serum of patients with CF: ghrelin, putative peptide YY (PYY), Agouti-signaling protein (ASP), and alpha-melanocyte-stimulating hormone (α-MSH). To our knowledge, serum levels of PYY, ASP, and α-MSH have not yet been assessed in CF. For this purpose, we measured hormone levels using enzyme-linked immunosorbent assays in 38 patients from the local CF care center, as well as 16 sex- and age-matched healthy controls. Moreover, we estimated the correlations between the tested hormones and the parameters of the patients’ clinical status. In this study, we found sinificantly reduced serum levels of ghrelin and ASP in patients with CF (p<0.01). There was no difference in PYY and α-MSH levels between participants with CF and healthy subjects. Furthermore, there was no difference in hormone levels between females and males with CF. The type of gene mutation (homozygous or heterozygous for ΔF508) had no effect on hormone levels. Ghrelin was negatively correlated with age, body mass index, and C-reactive protein. PYY was negatively associated with the age of the patients. Hormone dysregulation in CF may contribute to decreased appetite, as well as many other disturbed processes. Therefore, ghrelin appears to play a key role in the regulation of energy management of CF. Future multicenter and multidisciplinary studies should focus on an unequivocal understanding of the role of these hormones in CF.

294 National assessment of school resources in cystic fibrosis care centers

294 National assessment of school resources in cystic fibrosis care centers

68 Increasing care coordination between the primary cystic fibrosis team and gastroenterology in a pediatric cystic fibrosis care center using the model of improvement

68 Increasing care coordination between the primary cystic fibrosis team and gastroenterology in a pediatric cystic fibrosis care center using the model of improvement

Antimicrobial Stewardship in Cystic Fibrosis.

The chronic airway infection and inflammation characteristic of cystic fibrosis (CF) ultimately leads to progressive lung disease, the primary cause of death in persons with CF (pwCF). Despite many recent advances in CF clinical care, efforts to preserve lung function in many pwCF still necessitate frequent antimicrobial use. Incorporating antimicrobial stewardship (AMS) principles into management of pulmonary exacerbations (PEx) would facilitate development of best practices for antimicrobial utilization at CF care centers. However, AMS can be challenging in CF given the unique aspects of chronic, polymicrobial infection in the CF airways, lack of evidence-based guidelines for managing PEx, limited utility for antimicrobial susceptibility testing, and increased frequency of adverse drug events in pwCF. This article describes current evidence-based antimicrobial treatment strategies for pwCF, highlights the potential for AMS to beneficially impact CF care, and provides practical strategies for integrating AMS programs into the management of PEx in pwCF.

Experiences and Perspectives of Individuals with Cystic Fibrosis and Their Families Related to Food Insecurity

Food insecurity (FI) rates among people with cystic fibrosis (CF) are significantly higher than in the general US population. This study explored the experiences and perceptions of adults and parents of children with CF surrounding FI. We recruited parents of children with CF ages 0–18 years and adults with CF ages 18 years and older from a large, accredited U.S. CF care center and the Cystic Fibrosis Foundation Community Voice to participate in a qualitative study using semi-structured telephone interviews to explore experiences and preferences related to food insecurity. Two coders independently reviewed each transcript to apply the codebook and identify any emerging codes using an ongoing, iterative process to identify central themes. We interviewed 20 participants (six adults with CF and 14 parents of children with CF) and identified five major themes: (1) FI in CF is influenced by a variety of factors, ranging from nutritional demands to competing financial barriers; (2) FI impacts CF health outcomes; (3) Open patient-provider communication around FI is vital; (4) FI screening and discussions should be normalized in CF care; (5) Comprehensive FI resources are vital. FI is an important topic that should routinely be addressed with the CF care team to destigmatize and encourage individuals to be more forthcoming about their FI status. Results from this study will inform future larger investigations on the impact of FI on CF health and aid in the design and planning of targeted interventions and advocacy efforts.

Parenting Children with Cystic Fibrosis: Developmental Acquisition of Expertise.

This study was designed to increase our understanding of parents' experiences managing the needs of their children with cystic fibrosis (CF) and to identify potential gaps in services. We used grounded dimensional analysis of anonymous survey data obtained from a quality improvement initiative conducted by the Cystic Fibrosis Foundation (CFF). The Patient and Family Experience of Care (PFEC) survey was administered continuously at 125 CF care centers throughout the United States in 2017. The subsample of data for this study was completed by 80 parents/caregivers of children with CF (younger than 18 years). Two unifying themes emerged from parents' survey responses: (1) parents' expertise expands continually as they learn and adapt to changes in their children's maturity or health and (2) parental expertise is sometimes visible or invisible to clinicians. Parents' expertise evolved with their children's development. Visible to care teams was at-home care, e.g., respiratory treatments and medications. Less visible were intangible management activities, e.g., social processes, emotions, and concerns that were omnipresent for parents but seldom disclosed to or seen/recognized by clinicians. Themes, such as the quality of encounters with care teams, progressive nature of CF, and hope derived from advances in research, were associated with specific contextual factors. The findings expand our understanding of lived parental experiences of CF across childhood and offer direction for future quality improvement and research. Online parent surveys offer a valuable tool to identify unmet needs across subgroups of families affected by chronic childhood health conditions.

Cystic Fibrosis-Related Diabetes in Poland.

Cystic fibrosis (CF) is the most common autosomal recessive inherited monogenic disease in Caucasians. As medical technology progresses and the quality of patient care improves, the survival time of patients with CF has increased, which results in more frequent comorbidities such as cystic fibrosis-related diabetes (CFRD). CFRD is the result of abnormal glucose metabolism characterized primarily by insulin deficiency, exacerbated periodically by insulin resistance. The aim of our study was to analyze the epidemiology of patients with CFRD in Poland on the basis of data collected from six CF treatment centers. Analyses were performed on 1157 CF patients who were treated at one of the six CF care centers. CFRD was diagnosed according to standard criteria. All data including demographics, types of CFTR mutations, CFRD duration, and microorganisms in the sputum were obtained from the patients’ medical history. Our study indicates that the prevalence of CFRD in Poland is 12.9%. CFRD was most often diagnosed between the ages of 11 and 20 (60% of patients), while 23% of patients were diagnosed between 21 and 30 years of age. Furthermore, we observed that approximately 3–5% of patients under the age of 10 had CFRD. We found out that the type of mutation did not affect the frequency of CFRD development. Factors that increased the risk of developing CFRD include underweight and chronic Pseudomonas aeruginosa infection. Due to the extended lifespan of CF patients, the number of CFRD patients is currently increasing. We believe that the results of our study may complement information from other studies or may be useful in planning health policy in Poland.