An observational study in Cystic Fibrosis, sponsored by King's College London. Completed at 1 site in United Kingdom. Open to participants aged 10 Years to 99 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2024-03-08.
Sponsored by King's College London · Observational
Newborn bloodspot screening (from now on referred to as screening) for cystic fibrosis (CF) became part of the national screening programme in 2007. Screening for CF is also well established internationally. The current process works well but has some disadvantages: carrier reporting - which is not the intention of CF screening in the UK (\~200 pa); need for repeat samples which can be costly and contribute to parental worry (\~300 pa.); mutation panels not fully reflecting the ethnic diversity of the birth population; identification of children designated as CF screen positive, inconclusive diagnosis (CFSPID) which can cause uncertainty (\~20-30 pa).
A trial of NGS in one centre in the UK, for one year found that it was technically feasible at reasonable cost and with an acceptable turn around time. In addition, the trial determined that using NGS could mitigate against some of the disadvantages described above.
The purpose of this piece of work was to:
1,581 studies on the registry are indexed under Cystic Fibrosis; 190 are open to participants now.
This study's enrollment of 150 is above the median of 85 across 482 observational studies indexed under Cystic Fibrosis.
Browse Cystic Fibrosis studies →King's College London is the lead sponsor of 506 studies on the registry; 125 are open to participants now.
Counted across the registry records on this site, refreshed daily.
People with experience of CF, CFSPID or carrier status and health professionals with experience of caring for them.
Inclusion Criteria:
Adults aged over 18 years of age who:
(i) Were diagnosed with CF in childhood (ii) Were diagnosed with CF as adults (including those who would have been identified as CFSPID if NBS had been available and reporting it) (iii) Are carriers of CF (including parents/relatives of children/adults with CF and adults identified via other routes e.g. private testing)
Parents (aged over 18 years) of children identified through NBS who:
(iv) Have CF (v) Are carriers of CF (vi) Have a CFSPID designation (vii) Have received a false positive NBS result for CF (viii) Have received a false negative NBS result for CF
Children aged over 10 years of age* who:
(ix) Have CF (x) Have a CFSPID designation (xi) Are carriers of CF and have been informed of their carrier status
*Ten years of age has been chosen for both pragmatic reasons and because this represents the age at which children will begin preparing for transition to adult services and therefore a period of increased independence and/or preparing for specialist review
Exclusion Criteria:
Exclusion criteria for those affected by CF:
Exclusion criteria for professionals:
Those not involved in processing, communicating positive NBS results for CF to families or supporting families in health, community or education settings.
Adults or children with experience of CF.
Health professionals with experience of caring for people with experience of CF.
Focus groups/interviews/questionnaires exploring stakeholder views of the proposed CF screening protocol incorporating NGS.
Focus groups/interviews/questionnaires exploring stakeholder views, experiences and conceptualized harms/benefits in relation to the proposed CF screening protocol incorporating NGS
Time frame: February 2023
Focus groups/interviews/questionnaires exploring stakeholder views on equivocal, carrier, false positives/negatives results, late onset/uncertain conditions
Focus groups/interviews/questionnaires exploring stakeholder views on equivocal, carrier, false positives/negatives results, late onset/uncertain conditions identified early in life (infertility, potential CF), missed CF diagnoses, as well as the way these outcomes are prioritised and ordered when considering NGS for CF NBS
Time frame: February 2023
Q sorts used to develop data and materials FMCH and UK NSC can use to engage stakeholders
Q sorts used to develop data and materials FMCH and UK NSC can use to engage stakeholders more widely with discussions about a) the proposed protocol, and b) wider use of genomic testing in NBS
Time frame: February 2023
Surveys to explore principles of engagement for stakeholders
Surveys to explore principles of engagement for this population, building on the 'golden rules' but with context specific guidance under each that can be used in future commissioning
Time frame: February 2023
Plan to share: Undecided — Data are available on request from the corresponding author. The data are not publicly available due to ethical constraints
No publications or documents are linked to this record.
This study is completed, as verified in Mar 2024. You cannot join it, but the record below documents what was studied.
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King's College London