Cystic fibrosis (CF) care through the patients' eyes – A nationwide survey on experience and satisfaction with services using a disease-specific questionnaire

SummaryThe patients' perspective is an important aspect of quality management. A newly developed disease-specific questionnaire was used to assess the patients' experiences with care provided in specialised cystic fibrosis (CF) care centres.Methods90 CF centres in Germany were invited to participate. Centre staff collected patient consent forms and sent the patients' addresses to the study centre. The questionnaires for adults and parents had 100 and 104 items respectively, with 3–6 response categories each. Items were dichotomised into “problem scores” (PS), indicating the presence or absence (PS 0%) of a reported problem.Results56 CF centres took part in the survey and recruited 1642 adults with CF and 1205 parents. The response rates were 74% in each group, with 1221 completed questionnaires from adults and 891 from parents. Participants reported good experiences with care. Factor analysis revealed 10 factors covering 70 items. Participants reported the best results for the factors “Physiotherapists” (PS 6%) and “Physician–Patient Relationship” (PS 9%). Factors with the highest problem scores were inpatient and outpatient “Facilities, Hygiene and Services”. CF centres received reports of their own results and mean problem scores of all participating institutions. The problem scores differed considerably between CF centres.ConclusionsThe nation-wide CF-specific patient experience survey identified specific shortcomings which were mainly related to communication, centre organisation, and facilities. Centre staff can use the results to improve the quality of care. We suggest that patients' views should become an integral component of efforts to promote patient-centred care

Impact of COVID-19 on people with cystic fibrosis

International audienc

Standards of care for CFTR variant-specific therapy (including modulators) for people with cystic fibrosis

Cystic fibrosis (CF) has entered the era of variant-specific therapy, tailored to the genetic variants in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene. CFTR modulators, the first variant-specific therapy available, have transformed the management of CF.The latest standards of care from the European CF Society (2018) did not include guidance on variant-specific therapy, as CFTR modulators were becoming established as a novel therapy. We have produced interim standards to guide healthcare professionals in the provision of variant-specific therapy for people with CF.Here we provide evidence-based guidance covering the spectrum of care, established using evidence from systematic reviews and expert opinion. Statements were reviewed by key stakeholders using Delphi methodology, with agreement (≥80%) achieved for all statements after one round of consultation. Issues around accessibility are discussed and there is clear consensus that all eligible people with CF should have access to variant-specific therapy

Standards for the care of people with cystic fibrosis (CF); recognising and addressing CF health issues

This is the third in a series of four papers updating the European Cystic Fibrosis Society (ECFS) standards for the care of people with CF. This paper focuses on recognising and addressing CF health issues. The guidance was produced with wide stakeholder engagement, including people from the CF community, using an evidence-based framework. Authors contributed sections, and summary statements which were reviewed by a Delphi consultation. Monitoring and treating airway infection, inflammation and pulmonary exacerbations remains important, despite the widespread availability of CFTR modulators and their accompanying health improvements. Extrapulmonary CF-specific health issues persist, such as diabetes, liver disease, bone disease, stones and other renal issues, and intestinal obstruction. These health issues require multidisciplinary care with input from the relevant specialists. Cancer is more common in people with CF compared to the general population, and requires regular screening. The CF life journey requires mental and emotional adaptation to psychosocial and physical challenges, with support from the CF team and the CF psychologist. This is particularly important when life gets challenging, with disease progression requiring increased treatments, breathing support and potentially transplantation. Planning for end of life remains a necessary aspect of care and should be discussed openly, honestly, with sensitivity and compassion for the person with CF and their family. CF teams should proactively recognise and address CF-specific health issues, and support mental and emotional wellbeing while accompanying people with CF and their families on their life journey

Incidence of SARS-CoV-2 in people with cystic fibrosis in Europe between February and June 2020

Background Viral infections can cause significant morbidity in cystic fibrosis (CF). The current Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic could therefore have a serious impact on the health of people with CF (pwCF). Methods We used the 38-country European Cystic Fibrosis Society Patient Registry (ECFSPR) to collect case data about pwCF and SARS-CoV-2 infection. Results Up to 30 June 2020, 16 countries reported 130 SARS-CoV-2 cases in people with CF, yielding an incidence of 2.70/1000 pwCF. Incidence was higher in lung-transplanted patients (n=23) versus non-transplanted patients (n=107) (8.43 versus 2.36 cases/1000). Incidence was higher in pwCF versus the age-matched general population in the age groups <15, 15-24, and 25-49 years (p<0.001), with similar trends for pwCF with and without lung transplant. Compared to the general population, pwCF (regardless of transplantation status) had significantly higher rates of admission to hospital for all age groups with available data, and higher rates of intensive care, although not statistically significant. Most pwCF recovered (96.2%), however 5 died, of whom 3 were lung transplant recipients. The case fatality rate for pwCF (3.85%, 95% CI: 1.26-8.75) was non-significantly lower than that of the general population (7.46%; p=0.133). Conclusions SARS-CoV-2 infection can result in severe illness and death for pwCF, even for younger patients and especially for lung transplant recipients. PwCF should continue to shield from infection and should be prioritized for vaccination

Cystic fibrosis. Disease on the way to personalized therapy

By the introduction of newborn screening it has become possible in most patients to implement symptomatic therapy for cystic fibrosis in the first weeks of life. The life expectancy and the quality of life of patients and their families will be improved by this implementation. Many mutation-specific therapies as well as mutation-agnostic treatments are in preclinical and clinical development and two have already been approved. Because of the difficulties in evaluating the individual effectiveness of these therapies by using clinical parameters alone, measurement of improved chloride channel function in vivo and in vitro is becoming more important

Novel treatment modalities for cystic fibrosis

Cystic fibrosis (CF) is the most frequent life-shortening genetic disorder with an incidence of approximately 1:3300. The development of new treatment options is moving rapidly forward and looks very promising. Besides new modalities for symptomatic treatments, curative treatment approaches are also being developed. Pharmacological approaches to treat the basic defect of CF have become reality and several cystic fibrosis transmembrane conductance regulator (CFTR) modulators have already been licensed for specific mutations. The potentiator ivacaftor, which improves channel activity of CFTR has proven to be effective, although not fully corrective, in classIII mutations. The combination treatment of acorrector (lumacaftor and tezacaftor), which improves cell-surface expression rate of CFTR in F508del mutations, in combination with apotentiator (ivacaftor) leads to amodestly efficacious corrective treatment in patients homozygous for F508del. Triple combinations of two correctors and one potentiator lead to restoration of CFTR function close to levels resembling acure for CF in patients carrying at least one F508del mutation. In addition to the development of mutation-specific treatment, so-called mutation-agnostic approaches are also being developed. These are corrective treatments independent of the mutation class and therefore applicable to all CF patients, e.g. gene therapy, CRISPR-CAS9 and bypass approaches such as activation of alternative chloride channels and epithelial sodium channel (ENaC) blockers. This report provides an overview of the basic defect in CF, major approaches of preclinical research, clinical trials exploring the efficacy of several CFTR modulators as mutation-specific treatment options, new developments in symptomatic treatment options as well as personalized medicine to predict treatment responses

Cystic Fibrosis as a Rare Cause of Apple Peel Syndrome

Apple peel atresia is a special form of intestinal atresia with absence of mesentery. It is most likely due to an intrauterine intestinal vascular accident and has been described with other anomalies. Meconium ileus can compromise blood supply causing intestinal atresia. Therefore, cystic fibrosis needs to be ruled out in apple peel syndrome