ENHANCE: a community partnership charting the evolution of early-life cystic fibrosis disease manifestations in a new era of management

ENHANCE:一项社区合作项目,旨在记录囊性纤维化早期疾病在新管理时代的表现演变。

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Abstract

ENHANCE is a multicentre, longitudinal study examining the natural history of early cystic fibrosis (CF) disease manifestations in children. We hypothesise that the prevalence, presentation and natural history of disease manifestations of CF in young children will change significantly in the next decade with advances in the understanding and treatment of CF, including the use of therapies aimed at improving CFTR function. The study has been co-developed with the CF community, in order to try to answer questions of key importance to people with CF and their caregivers. The study will longitudinally monitor lung health using nitrogen multiple breath washout testing and spirometry, lung structure using spirometry-controlled computed tomography scanning, gastrointestinal health using gut microbiome, gut inflammation and abdominal symptom scores, pancreatic function using faecal elastase, liver function using liver blood tests and liver ultrasound, and sweat chloride. Mental health will be longitudinally assessed using questionnaires for mood (PROMIS, GAD-7), quality of life (CFQ-R) and psychosocial functioning (Pediatric Symptom Checklist). There are three cohorts in the study: infants with CF diagnosed by newborn screening (n=250), children aged 0-6 years and currently attending CF centres (n=200) and healthy newborn infant controls (100). The study will be conducted over 5 years in the first phase with a plan to extend through further phases in the future. We envisage that the study will provide important evidence to enable healthcare staff and families to guide the care of children with CF in the future.

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