Cystic Fibrosis
Conditions
Brief summary
Measured outcomes for people with CF have improved dramatically over the last 20 years, even prior to the widespread introduction of cystic fibrosis transmembrane conductance regulator (CTFR) modulator treatments. The outlook for children with CF has improved significantly, with longer predicted survival and a lower likelihood of morbidity. This has accelerated recently. These changes have occurred within a short period of time, and there is much that we now do not understand about disease progression in children with CF and how this differs from children without CF. CF is an area which is fortunate to have well-developed and successful disease registries. CF registries have provided significant amounts of very useful data to guide improvement in treatment and outcomes over many decades. The power of registries comes from the collection of a well-defined set of important outcome measures in very large numbers of people over many years. The outcome measures collected routinely in clinical care, which form part of the registries, are helpful in monitoring moderate-advances and symptomatic disease in people with CF. CF registries however do not tend to collect tomography(CT) scores, lung clearance index(LCI) or indeed repeated collection of biomarkers of disease activity such as sweat chloride which are increasingly relevant in an era of modulator therapies and reducing burden of symptomatic disease. We perceive an urgent need to complement registry data, cataloguing the changing natural history if early childhood CF by proactively collecting and curating sensitive, meaningful outcome data in a large cohort of children during this new era in Ireland and the UK. The prevalence, presentation and natural history of disease manifestation 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 CFTR function. ENHANCE provides an opportunity to study these changes in real-time and in ways that are relevant to the CF community.
Interventions
OTHERQuality of Life
ENHANCE will collect natural history on all children with cystic fibrosis who are enrolled over a 5 year period
Sponsors
University Hospital of Limerick
Cork University Hospital
University College Hospital Galway
Belfast Health and Social Care Trust
NHS Lothian
Alder Hey Children's NHS Foundation Trust
Manchester University NHS Foundation Trust
Newcastle-upon-Tyne Hospitals NHS Trust
Cardiff and Vale University Health Board
Royal Brompton & Harefield NHS Foundation Trust
Erasmus University Rotterdam
Medizinische Hochschule Brandenburg Theodor Fontane
Massachusetts General Hospital
The Hospital for Sick Children
Teagasc
Royal College of Surgeons, Ireland
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Months to 5 Years
Healthy volunteers
Yes
Inclusion criteria
Children with CF attending one of the study centres and fulling one of the following: * Newborn infant diagnoses with cystic fibrosis through newborn screening (excludes children with an uncertain diagnosis), or having 2 documented CF disease causing mutations. * Children with CF (sweat chloride\>60mmol/L or 2 CF disease causing mutations) aged 0-6 at study initiation * Healthy control infants without CF
Exclusion criteria
* Children or their parents not willing or able to complete with study procedures or assessments. * Co-morbidities in groups 1 and 2, unrelated to CF, that in the opinion of the investigator would substantially impact on study measurements and unduly affect the veracity of the outcome data, for example a diagnosis of inflammatory bowel disease or extreme prematurity. * Children in the control group who are carriers of CFTR mutations or have chronic medical or GI/Liver conditions that in the opinion of the investigator would unduly affect the veracity of the outcome data. * We will not exclude someone who subsequently joins a CF Investigational drug trial if they are happy to continue, but if possible, will time their annual ENHANCE data collection to fall outside the time period of any experimental study drug administration
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 1. The incidence, prevalence and progression of structural lung disease | 60 Months | Spirometry-controlled Computed Tomography |
| 2. The long-term natural history of pulmonary function and ventilation homogeneity. | 60 Months | Spirometry, Multiple Breath Washout |
| 3. The incidence, prevalence and longitudinal progression of CF liver disease. | 60 Months | Liver Ultrasound, Liver Function Tests |
| 4. The prevalence, natural history and progression of exocrine pancreatic dysfunction | 60 Months | Faecal Elastase Analysis |
| 5. The longitudinal natural history of gastrointestinal symptoms, inflammation and the gut microbiome compared to a healthy control population | 60 Months | Microbiome Analysis, Identification of inflammatory markers, Abdominal Symptom Scores |
| 6. The longitudinal natural history of annual sweat chloride levels in infants and children of different ages, the influence of different treatments on this and its association with other outcomes | 60 Months | Sweat chloride |
| 7. The longitudinal natural history of mental health outcomes in children with CF compared to controls. | 60 Months | Mental Health Quality Of Life Questionnaires |
Contacts
Primary ContactKaren Lester, PhD
Backup ContactRachel Cregan, MSc
Outcome results
None listed