European Cystic Fibrosis Society Standards of Care: Framework for the Cystic Fibrosis Centre

A significant increase in life expectancy in successive birth cohorts of people with cystic fibrosis (CF) is a result of more effective treatment for the disease. It is also now widely recognized that outcomes for patients cared for in specialist CF Centres are better than for those who are not. Key to the effectiveness of the specialist CF Centre is the multidisciplinary team (MDT), which should include consultants, clinical nurse specialist, microbiologist, physiotherapist, dietitian, pharmacist, clinical psychologist, social worker, clinical geneticist and allied healthcare professionals, all of whom should be experienced in CF care. Members of the MDT are also expected to keep up to date with developments in CF through continued professional development, attendance at conferences, auditing and involvement in research. Specialists CF Centres should also network with other Centres both nationally and internationally, and feed Centre data to registries in order to further the understanding of the disease. This paper provides a framework for the specialist CF Centre, including the organisation of the Centre and the individual roles of MDT members, as well as highlighting the value of CF organisations and disease registries

Development of a humanized CF mouse model

Animal models are widely used for the study of the pathophysiology of human diseases and the efficacy of new therapies. In the context of cystic fibrosis (CF), several animal (mouse, pig or ferret) models have been developed. However, they show little or no severe respiratory phenotype typically associated with the high morbidity and mortality of the human disease. Based on the observation that the F508del mutation of CFTR leads to a more severe CF phenotype for the human CFTR (hCFTR) than the murine CFTR (mCFTR), this project aims at developing a CF mouse model expressing the hCFTR gene. To obtain the model of interest, two murine lines were generated and then crossed: 1) a line deleted for the mCftr (generated using CRISPR/Cas9) and 2) a line over-expressing the hCFTR (generated by additional transgenesis). Subsequently, the mice obtained were genotyped and characterized. For this purpose, analyses of the overall phenotype (weight curve and height), of the expression of the hCFTR and mCftr genes, of the chloride channel function by measuring nasal potential difference, of the lung phenotype (inflammatory response and bronchopulmonary anatomopathological study) were carried out. Our first observations (reduced growth, dental enamel defect, disorders of the transepithelial transport of chloride through the respiratory epithelium) suggest that hCFTR mice generated present a characteristic CF phenotype with similarities to those pre-established mouse models. These observations require confirmation in a larger number of animals. Moreover, it will also be necessary to refine the phenotypic characterization by further targeting the respiratory function, for example by assessing the inflammatory response not only under naïve conditions but also following induction by well-established bacterial components. The model will hopefully allow a better understanding of the genotype/phenotype differences between the hCFTR and the mCFTR

Guidelines on the early management of infants diagnosed with cystic fibrosis following newborn screening

BACKGROUND: Successful implementation of newborn screening (NBS) for cystic fibrosis (CF) depends on robust protocols, good communication and appropriate management of recognised infants. In response to current varied practice, the ECFS Neonatal Screening Working Group developed a consensus on the early management of these infants using the Delphi methodology. METHODS: Following detailed literature review, statements were generated by a core group of experts and then assessed by a larger group using modified Delphi methodology. RESULTS: Forty-one statements were written by the core group. Eighty-six CF specialists contributed to the modified Delphi process. During three rounds, extra statements were added and consensus achieved on 44 (one statement did not achieve consensus). CONCLUSIONS: These statements will provide a framework for the management of screened infants in the first year of life. This process highlights the paucity of evidence on which to base management of these infants. To improve this situation, it is important that each infant with CF identified through NBS has opportunity to be included in a randomised controlled trial

Exploring the need for transition readiness scales within cystic fibrosis services: a qualitative descriptive study

Aims and objectivesTo explore healthcare professionals' and patients' perceptions of the potential use of a Transition Readiness Scale in cystic fibrosis care. This included an examination of barriers and facilitators to its implementation along with the identification of key items to include in a Transition Readiness Scale. BackgroundDue to increasing life expectancy and improved quality of life, more adolescents with cystic fibrosis are transitioning from paediatric to adult health care. To assess and correctly manage this transition, a more structured approach to transition is advocated. This can be achieved using a Transition Readiness Scale to potentially identify or target areas of care in which the adolescent may have poor knowledge. These key items include education, developmental readiness taking into account relationships, reproduction, future plans and self-management skills. Existing tools to gauge readiness concentrate mainly on education and self-care needs assessment as their key items. Currently, there is no specific cystic fibrosis Transition Readiness Scale in use in Ireland or internationally. DesignThe study used a descriptive qualitative design. MethodsData were collected using semi-structured interviews (n=8) and analysed using a thematic approach. ResultsThe findings identified the potential benefits of this tool and second the resources which need to be in place before its development and implementation into cystic fibrosis services. ConclusionTransition Readiness Scales have substantial relevance with cystic fibrosis services emphasising the importance of establishing the necessary resources prior to its implementation. These were identified as more staff, a dedicated private space and staff training and education. Relevance to Clinical PracticeSignificant resources are needed to fully integrate Transition Readiness Scales in practice. The study findings suggest multidisciplinary collaborations, and patient engagement is pivotal in planning and easing the transition process for adolescents with cystic fibrosis

Cystic fibrosis research in allied health and nursing professions

This report is the result of the “Allied Health and Nursing Professions Working Group” meeting which took place in Verona, Italy, November 2009, which was organised by the European Cystic Fibrosis Society, and involved 32 experts. The meeting was designed to provide a “roadmap” of high priority research questions that can be addressed by Allied Health Professionals (AHP) and nursing. The other goal was to identify research skills that would be beneficial to AHP and nursing researchers and would ultimately improve the research capacity and capability of these professions. The following tasks were accomplished: 1) a Delphi survey was used to identify high priority research areas and themes, 2) common research designs used in AHP and nursing research were evaluated in terms of their strengths and weaknesses, 3) methods for assessing the clinimetric and psychometric properties, as well as feasibility, of relevant outcome measures were reviewed, and 4) a common skill set for AHPs and nurses undertaking clinical research was agreed on and will guide the planning of future research opportunities. This report has identified important areas and themes for future research which include: adherence; physical activity/exercise; nutritional interventions; interventions for the newborn with CF and evaluation of outcome measures for use in AHP and nursing research. It has highlighted the significant challenges AHPs and nurses experience in conducting clinical research, and proposes strategies to overcome these challenges. It is hoped that this report will encourage research initiatives that assess the efficacy/effectiveness of AHP and nursing interventions in order to improve the evidence base. This should increase the quality of research conducted by these professions, justify services they currently provide, and expand their skills in new areas, with the ultimate goal of improving care for patients with CF