Cystic fibrosis year in review 2023.

This past year, there were many important advances for patients with cystic fibrosis (CF). Of the many publications related to CF in 2023, there was further evaluation of highly effective modulator therapy, new assessments and guidelines for clinical manifestations and therapies for CF, advances in newborn screening and diagnosis, and evaluation of outcomes for people with CF transmembrane conductance regulator-related metabolic syndrome/CF screen positive, inconclusive diagnosis. The aim of this review article is not to provide a full assessment of the wide range of articles published in 2023, but to provide a brief review of publication that may lead to changes in clinical care.

Cystic fibrosis year in review 2022.

Remarkable medical advancements have been made for people with cystic fibrosis (CF) in recent years, with an abundance of research continuing to be conducted worldwide. With concern for limitations in access to highly effective CFTR modulators, as well as the recent Coronavirus Disease-19 pandemic, there has been a consistent effort to understand and improve CF screening, disease burden, diagnosis, and management. Our aim in this review is to present articles from 2022 with an emphasis on clinically relevant studies. We hope this will serve as a broad overview of the research published in the past year.

Cystic fibrosis year in review 2019: Section 3 multisystem-based care and research.

During the year 2019, numerous research studies and other reports were published that are interesting and instructive to professionals who care for people with cystic fibrosis (CF) and their families.  This report is the third of 3 CF year in review articles and focuses on the multisystem manifestations of CF care. Previous articles have addressed cystic fibrosis transmembrane regulator modulators and reports on CF pulmonary disease and airway infections. It is an exciting time to be involved in care and research that aims to improve care for people with CF and their families.

Cystic fibrosis year in review 2019: Section 2 pulmonary disease and infections.

During the year 2019, research and case reports or series in the field of cystic fibrosis (CF) were in abundance. To adequately address the large body of CF research published during 2019, the CF year in review will be divided into three sections. This report is the second section, focusing specifically on new research related to pulmonary disease and infections. Additional sections will concentrate on CF transmembrane conductance regulator modulators and the multisystem effects of CF. It is an exciting time to be providing care for patients and their families with CF with all the exciting new discoveries that will be shared in these reviews.

Cystic fibrosis year in review 2021.

People with cystic fibrosis (CF) have an amazing outlook with the treatment availability of highly effective modulators. Unfortunately, not all people with CF are eligible for modulators leading to continued pulmonary exacerbations and advanced lung disease. Additionally, optimizing diagnosis and evaluation for CF in the newborn period continues to be an area of focus for research. This review article will work to cover articles published in 2021 with high clinical relevance related to the above topics; however, due to the extensive body of research published, this review will not be comprehensive.

Cystic fibrosis year in review 2020: Section 2 pulmonary disease, infections, and inflammation.

The outlook for those with cystic fibrosis (CF) has never been brighter with ever increasing life expectancy and the approval of the highly effective CFTR modulators, such as elexacaftor/tezacaftor/ivacaftor. With that being said, the progressive pulmonary decline and importance of lung health, infection, and inflammation in CF remains. This review is the second part in a three-part CF Year in Review 2020. Part one focused on the literature related to CFTR modulators while part three will feature the multisystem effects related to CF. This review focuses on articles from Pediatric Pulmonology, including articles from other journals that are of particular interest to clinicians. Herein, we highlight studies published during 2020 related to CF pulmonary disease, infection, treatment, and diagnostics.

Review of CFTR modulators 2020.

Cystic fibrosis transmembrane conductance regulator (CFTR) modulators are small molecules that directly impact the CFTR protein, improving the function of the CFTR chloride and bicarbonate channel. Beginning in 2012 with the Food and Drug Administration approval of the first CFTR modulator, ivacaftor, this class of medications has had largely positive effects on many outcomes in people with cystic fibrosis (PwCF), including lung function, growth, and other clinical parameters. There have been continued exciting developments in the current research on CFTR modulators, expanding beyond original studies. This first part of a three-part cystic fibrosis (CF) year in review 2020 will focus on research on CFTR modulators. In addition to reviewing new clinical insights, we describe work done on novel outcomes, adverse effects, issues related to cost, and next steps for clinical trials. The review focuses on articles from Pediatric Pulmonology published in 2020, but it includes articles from other journals that are of particular interest to clinicians. New developments in CF research continue to be brought forth to the CF community, deepening the understanding of this disease and improving clinical care.

Year in Review 2020: Multisystemic impact of cystic fibrosis.

Clinical care in cystic fibrosis (CF) has continued to advance over the last several years, particularly with the widespread eligibility and use of highly effective modulator therapy. Improved outcomes and longevity of persons with CF (PwCF) have increased recognition of the multisystem impact of the disease on the daily lives of PwCF. This review will cover a broad array of topics, from diagnosis to multisystem effects related to mental health, endocrine, palliative care, reproductive health, otolaryngology, and cardiac issues. Additionally, worldwide care delivery will be reviewed, demonstrating variation in outcomes based on resources and populations served. This review is part of the CF Year in Review 2020 series, focusing on the multi-system effects of CF. This review focuses on articles from Pediatric Pulmonology but also includes articles published in 2020 from other journals that are of particular interest to clinicians.

Year in review 2020: Nutrition and gastrointestinal disease in cystic fibrosis.

The multisystemic manifestations of cystic fibrosis (CF) involve all parts of the gastrointestinal (GI) system, including the pancreas, intestine, and liver. As providers who care for people with CF, knowledge of the manifestations, treatment, and research related to nutrition and GI disease are important. This review is the last installment of the CF year in review 2020 series, focusing on nutritional, GI, and hepatobiliary articles from Pediatric Pulmonology and other journals of particular interest to clinicians.

Systematic depression and anxiety screening for patients and caregivers: implementation and process improvement in a cystic fibrosis clinic.

INTRODUCTION: Depression and anxiety are common. Rates are significantly higher in cystic fibrosis (CF), and impact health outcomes. Screening is recommended, but is difficult to implement/sustain annually in a busy CF centre. The aim was to develop an acceptable model for depression and anxiety screening in adolescents/adults with CF and their caregivers that could be sustained and shared. METHODS: Quality improvement methodology with plan-do-study-act cycles, flow diagrams, review of data monthly with our designated 'Mental Health Team' and caregiver satisfaction surveys, were used to begin screening in clinics and to improve the process. We then piloted our process at a larger paediatric CF centre. RESULTS: Prior to 2013, screening was not performed at our CF centre. After the first quarter of depression screening, 88% of adolescents and 69% of adults with CF were screened. The process was refined. By the second year, 99% of patients were screened. Anxiety screening began in year three; 97%-99% of patients were screened for both anxiety and depression in years 3-5. Annual caregiver screening rates were >95%. Screening was changed from Patient Health Questionnaire-2 (PHQ-2) to PHQ-9 due to better sensitivity in caregivers, and expanded to patients. Anxiety screening began in year 3 with the Generalised Anxiety Disorder-7 questionnaire. Patients and caregivers reported acceptance of screening. At the larger paediatric centre used as a pilot, 89.6% of patients were screened in year 1. Feedback included recommendations to improve tracking/follow-up of positive screens. CONCLUSIONS: Development and implementation of a stepwise process for depression and anxiety screening was successful in a paediatric/adult CF clinic, due to constant re-evaluation by an engaged team with feedback from patients via survey. A systematic approach at a busy CF centre can serve as a model to implement screening in a clinic.

Cystic fibrosis year in review 2019: Section 1 CFTR modulators.

During the year 2019, research and case reports/series in the field of cystic fibrosis (CF) were in abundance. To adequately address the large body of CF research published during 2019, the CF year in review will be divided into three sections. This report is the first section, focusing specifically on new research related to cystic fibrosis transmembrane conductance regulator modulator therapy. Additional sections will concentrate on pulmonary and infections research and the multisystem effects of CF. It is an exciting time to be providing care for patients and their families with CF with all the exciting new discoveries that will be shared in these reviews.

Cystic fibrosis diagnosed by state newborn screening: Or is it?

Newborn screening for cystic fibrosis is universal across the United States; however, each state chooses the method by which they screen. Illinois employs a two-step process which includes the measurement of the immunoreactive trypsinogen followed by an assay designed to detect 74 of the most common genetic mutations in the cystic fibrosis transmembrane conductance regulator protein. We report the case of an infant born in Illinois with a positive cystic fibrosis newborn screening with an elevated immunoreactive trypsinogen and two genetic mutations identified (F508del/F508del). The primary care physician informed the parents their child had cystic fibrosis and referred her for a confirmatory sweat test which was negative for cystic fibrosis. Upon further investigation, the assay was found to have been set up incorrectly and repeat analysis identified the genotype F508del/F508C. This case highlights the importance of performing the confirmatory sweat test prior to making a diagnosis of cystic fibrosis.

Improved outcomes in cystic fibrosis using modified Re-Education of Airway Clearance Technique (REACT) programme.

BACKGROUND AND OBJECTIVES: Cystic fibrosis (CF) is known to reduce lung function as measured by per cent predicted for the forced expiratory volume in the first second (ppFEV1) over time. Our paediatric CF programme demonstrated significant gaps in benchmarked ppFEV1 predicted compared with the national median. Our objective was to assess whether the implementation of a modified Re-Education of Airway Clearance Techniques (REACT) programme could lead to an improvement in lung function as measured by ppFEV1. METHODS: This 2-year prospective quality improvement study at Lurie Children's CF Center for children aged >6 years used improvement methodology to implement a modified REACT programme. Outcome measures were assessed for our entire programme via the CF Foundation Patient Registry (CFFPR) and statistical process control. Comparisons were also made before and after REACT for outcome measures. RESULTS: By the end of implementation, monthly participation rate achieved 100%. Using CFFPR data and SPC, median ppFEV1 increased by 3.9%, whereas only body mass index (BMI) as a secondary outcome increased. Comparison of pre and post REACT showed improvements in average ppFEV1 (95% vs 96%, p<0.0001), FEF25%-75% (82% vs 83%, p=0.0590), rate of ppFEV1 decline (+2% vs -4%, p=0.0262) and BMI percentile (57% vs 60%, p<0.0001). CONCLUSIONS: Implementation of a modified REACT at Lurie Children's paediatric CF programme led to an increase in ppFEV1, FEF25%-75% and BMI percentile.

Formative evaluation of a dashboard to support coproduction of healthcare services in cystic fibrosis.

BACKGROUND: Healthcare coproduction engages patients and clinicians to design and execute services, yet little is known about tools that facilitate coproduction. Our objective was to understand uptake, experiences, benefits, and limitations of a dashboard to support patient-clinician partnerships within the cystic fibrosis (CF) community. METHODS: People living with CF (PwCF) and clinicians co-designed a dashboard that displayed patient-reported and clinical data. Eight CF programmes, including 21 clinicians, and 131 PwCF participated in a pilot study of the dashboard. We conducted descriptive statistics and thematic analyses of surveys (82 PwCF; 21 clinicians); semi-structured interviews (13 PwCF; 8 care teams); and passively-collected usage data. RESULTS: Two-thirds of the 82 PwCF used the dashboard during a visit, and 59% used it outside a visit. Among 48 PwCF using the dashboard outside the clinic, 92% viewed their health information and 46% documented concerns or requests. Most of the 21 clinicians used the dashboard to support visit planning (76%); fewer used it during a visit (48%). The dashboard supported discussions of what matters most (69% PwCF; 68% clinicians). Several themes emerged: access to patient outcomes data allows users to learn more deeply; participation in pre-visit planning matters; coproduction is made possible by inviting new ways to partner; and lack of integration with existing information technology (IT) systems is limiting. CONCLUSIONS: A dashboard was feasible to implement and use. Future iterations should provide patients access to their data, be simple to use, and integrate with IT systems in use by clinicians and PwCF.

Tolerance of 7% Hypertonic Saline in Pediatric Cystic Fibrosis Patients.

Background: Clinical trials of 7% hypertonic saline (HTS) in cystic fibrosis (CF) show short- and long-term benefits, including improved pulmonary function and reduced exacerbation risk. Adverse effects of HTS include bronchospasm, and guidelines recommend tolerance be tested in a clinical environment before prescribing. We evaluated the rate of, and risk factors for, intolerance of HTS at a single pediatric CF program. Methods: Single-center retrospective study in patients with CF, aged 6-20 years, who received an HTS test dose between 2006 and 2017. HTS intolerance was defined as either a ≥10% decline in forced expiratory volume in 1 s (FEV1) percent predicted or wheezing/severe cough. Results: Fifty-one patients met inclusion criteria, and 13 (25%) showed intolerance of 7% HTS. There were trends toward higher rates of comorbidities in the patients intolerant versus tolerant of HTS, including allergies and/or rhinitis 85% versus 66% (P = 0.30) and sinus disease 85% versus 58% (P = 0.10). A trend toward more methicillin-sensitive Staphylococcus aureus (58% vs. 31%, P = 0.09) and asthma (42% vs. 24%, P = 0.09) was seen in patients tolerant of HTS. Demographics, pulmonary function, nutritional parameters, laboratory tests, respiratory cultures, chronic therapies, and antibiotics for exacerbations did not differ. Conclusions: In our program, 1:4 children with CF exhibited objective findings of HTS intolerance. There were trends suggesting higher frequency of allergies and rhinosinusitis in intolerant children. Assessing tolerance of HTS before prescribing chronic daily therapy is important. Larger studies are needed to more accurately define the incidence of intolerance and risk factors.

Perceptions of safety monitoring in CF clinical studies and potential impact on future study participation.

BACKGROUND: Individuals with CF and their parents cite safety concerns as barriers to participating in clinical studies. We assessed whether a brochure/infographic describing patient safety monitoring processes could reduce knowledge and attitude barriers regarding safety monitoring. We also identified factors associated with likely participation in future CF studies. METHODS: Respondents from three CF centers in the U.S. were randomly assigned to receive the safety monitoring brochure/infographic or an unrelated brochure. Fifty parents of children with CF <16, 50 adolescents with CF 16-21, and 50 adults with CF ≥22 years old were recruited to complete the study survey. Factors associated with survey responses and with reported likelihood of participating in future studies were assessed. RESULTS: Overall the safety monitoring brochure/infographic was associated with increased likelihood of future participation in non-drug studies (aOR 2.30, CI95 1.01-5.28), but not in drug studies. Non-Hispanic respondents reported greater likelihood of participating in a future drug study than Hispanic respondents (aOR 3.18, CI95 1.30-7.74). Adults with CF (aOR 2.62, CI95 1.05-6.51) and parents (aOR 4.49, CI95 1.66-12.15) were more likely than adolescents to report they would ask their care team about clinical trials. Confidence in safety monitoring was associated with reported likelihood of future participation in drug studies. CONCLUSIONS: Potential future participation in CF drug and/or non-drug studies was associated with respondent age and ethnicity, receiving the safety monitoring brochure/infographic, and confidence in safety monitoring. Our findings underscore the need for education about safety monitoring, with targeted approaches for the Hispanic CF population and adolescents.

Cystic fibrosis year in review 2018, part 2.

Cystic fibrosis (CF) research and case reports were robust in the year 2018. This report summarizes publications related the multisystem effects of CF, pulmonary exacerbations, new and expanded therapies other than cystic fibrosis transmembrane conductance regulator modulator studies, and patient-reported priorities and outcomes.

Cystic fibrosis year in review 2018, part 1.

Cystic fibrosis research and case reports were robust in the year 2018. This report summarizes research and cases related to Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) modulator therapies, inflammation and infection, epidemiology and the physiologic, and imaging assessment of disease.

Cystic fibrosis year in review 2017.

In this article, we highlight cystic fibrosis (CF) reports published in Pediatric Pulmonology during 2017. We also include articles from a variety of journals that are related or are of special interest to clinicians.