Joining the dots for CFSPID
Research type
Research Study
Full title
Joining the dots in Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID) long-term outcomes: A pilot study to assess the utility of sensitive pulmonary outcome measures in CFSPID
IRAS ID
344976
Contact name
Rebecca A Dobra
Contact email
Sponsor organisation
Imperial College London
Clinicaltrials.gov Identifier
181808, Edge sponsor number
Duration of Study in the UK
2 years, 6 months, 1 days
Research summary
Cystic Fibrosis Screen Positive Inconclusive Diagnosis (CFSPID) is the designation used for children with a positive newborn screen for whom follow-up tests do not confirm a CF diagnosis. Most will remain healthy, however, some will be reclassified to a CF diagnosis or develop Cystic Fibrosis Transmembrane Conductance Receptor related disorders (CFTR-RD) later in life (e.g. airway/sinus disease). The CFSPID management guidelines were established by an expert panel, including coinvestigator Jane Davies, but by necessity based on limited evidence. Monitoring children with CFSPID should allow early recognition and timely interventions for children at risk, but currently we cannot predict this progression. The risk of over-medicalising a healthy child, and the associated parental anxiety, must be balanced against that of missing a child with CF/CFTR-RD.
There is a clear need for further evidence on which to base the management of CFSPID, to better understand the natural history of CFSPID and identify prognostic markers for those at risk of developing CF/CFTR-RD. We also want to better understand the impact of the CFSPID label on parental and child emotional wellbeing.
We will use established and novel outcome measures (OM)s to characterise and track a pan-London cohort of children with CFSPID. These will include specialist lung function tests and sensitive imaging that does not use radiation. We will compare the OMs from the CFSPID cohort to age/sex-matched healthy controls and children with CF over approximately two years. We will assess whether early use of novel sensitive pulmonary OMs can identify children with CFSPID at higher risk of developing CF or CFTR-RD. We will use the results of the study to determine power calculations/sample size for a longer, national study. We will use questionnaires and qualitative interviews with parents and children who are old enough to contribute to better understand the emotional impact of the label.
REC name
London - Brighton & Sussex Research Ethics Committee
REC reference
25/LO/0901
Date of REC Opinion
5 Jan 2026
REC opinion
Further Information Favourable Opinion