Cystic FibrosisNCT06299566
Perceptions of the CF Screening Protocol Incorporating NGS
An observational study of Cystic Fibrosis, run by King's College London at 1 site in United Kingdom.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 10 to 99 yearsHealthy volunteers can take part
- Conditions the study is for
- Cystic Fibrosis
- How many people
- 150 participants
- Where
- 1 siteUnited Kingdom
- Study dates
- 19 Jan 2022to 28 Feb 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 10 to 99 years
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: People with experience of CF, CFSPID or carrier status and health professionals with experience of caring for them.
Who may be able to join
- Adults aged over 18 years of age who:
- 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:
- 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:
- 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
- Professionals involved in processing and/or communicating positive NBS results for CF to families or supporting families in health, community or education settings e.g. doctors, nurses, geneticists, genetic counsellors, midwives, social workers, dieticians, physiotherapists, teachers, university lecturers, charities.
Who cannot join
- Adults or children with non CF related co-morbidities that are likely to influence their perception of the proposed CF screening protocol incorporating NGS
- Parents whose child has died prior to being approached to be involved in the study
- Adults or children unable to understand the PIS and give informed consent/assent respectively
- Adults or children whose recruitment is contraindicated on psychosocial or medical grounds (identified by their health visitor or specialist team).
- Those not involved in processing, communicating positive NBS results for CF to families or supporting families in health, community or education settings.
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Exploring Perceptions on the Proposed Cystic Fibrosis Screening Protocol Incorporating Next Generation Sequencing
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.
Read more
The purpose of this piece of work was to:
- Gather, compare and analyse the views of a range of stakeholders on the proposed CF screening protocol incorporating NGS.
- Use the outcomes to inform discussions and decisions by the fetal, maternal and child health (FMCH) group and UK National Screening Committee (NSC) about the proposed protocol
- Consider what generalisable information on the views of stakeholders on newborn screening could be generated from this exercise to inform other FMCH and UK NSC discussions
- Evaluate and learn from the exercise to inform future stakeholder engagement activities by the UK NSC and screening programmes.
- Conditions
- Cystic Fibrosis
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| People with experience of cystic fibrosis | Adults or children with experience of CF. | |
| Health professionals | Health professionals with experience of caring for people with experience of CF. |
What is being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: February 2023
Secondary outcomes (3)
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
Measured: 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
Measured: 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
Measured: February 2023
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted8 Mar 2024
- Study start19 Jan 2022
- Primary completion28 Feb 2023
- Study completion28 Feb 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Prospective
- Enrolment
- 150 participants (actual)
Sponsor and investigators
- Lead sponsor
- King's College London
- Sponsor type
- University, hospital or other
- Collaborators
- University of Warwick, Coventry University, Barts & The London NHS Trust, Cystic Fibrosis Trust
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06299566
- Sponsor's protocol ID
- CF NGS
- Status last verified
- Mar 2024
- First submitted
- 20 Feb 2024
- Last updated
- 8 Mar 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided: Data are available on request from the corresponding author. The data are not publicly available due to ethical constraints
Publications
Moody L, Clarke S, Compton M, Hughson-Gill R, Boardman F, Clark C, Holder P, Bonham JR, Chudleigh J. Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study. J Particip Med. 2025 Mar 6;17:e59686. doi: 10.2196/59686.
PubMed 40053726
Study at a glance
From the registry record, last updated by the sponsor on 8 Mar 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Exploring Perceptions on the Proposed Cystic Fibrosis Screening Protocol Incorporating Next Generation Sequencing
- ClinicalTrials.gov ID
- NCT06299566
- Acronym / sponsor ID
- CF NGS
- Conditions
- Cystic Fibrosis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 150 participants (actual)
- Lead sponsor
- King's College LondonUniversity, hospital or other
- Collaborators
- University of Warwick, Coventry University, Barts & The London NHS Trust, Cystic Fibrosis Trust
- Study start
- 19 Jan 2022 (actual)
- Primary completion
- 28 Feb 2023 (actual)
- Study completion
- 28 Feb 2023 (actual)
- First posted
- 8 Mar 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- Gather, compare and analyse the views of a range of stakeholders on the proposed CF screening protocol incorporating NGS.
- Use the outcomes to inform discussions and decisions by the fetal, maternal and child health (FMCH) group and UK National Screening Committee (NSC) about the proposed protocol
- Consider what generalisable information on the views of stakeholders on newborn screening could be generated from this exercise to inform other FMCH and UK NSC discussions
- Evaluate and learn from the exercise to inform future stakeholder engagement activities by the UK NSC and screening programmes.
Study design
- Observational model
- Other
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| People with experience of cystic fibrosis | – | –Adults or children with experience of CF. |
| Health professionals | – | –Health professionals with experience of caring for people with experience of CF. |
Who may qualify
- Ages
- 10 to 99 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- People with experience of CF, CFSPID or carrier status and health professionals with experience of caring for them.
Key inclusion criteria (8 listed)
- Adults aged over 18 years of age who:
- Parents (aged over 18 years) of children identified through NBS who:
- Children aged over 10 years of age* who:
- 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
- Professionals involved in processing and/or communicating positive NBS results for CF to families or supporting families in health, community or education settings e.g. doctors, nurses, geneticists, genetic counsellors, midwives, social workers, dieticians, physiotherapists, teachers, university lecturers, charities.
Key exclusion criteria (5 listed)
- Adults or children with non CF related co-morbidities that are likely to influence their perception of the proposed CF screening protocol incorporating NGS
- Parents whose child has died prior to being approached to be involved in the study
- Adults or children unable to understand the PIS and give informed consent/assent respectively
- Adults or children whose recruitment is contraindicated on psychosocial or medical grounds (identified by their health visitor or specialist team).
- Those not involved in processing, communicating positive NBS results for CF to families or supporting families in health, community or education settings.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Focus groups/interviews/questionnaires exploring stakeholder views of the proposed CF screening protocol incorporating NGS.
Time frame: February 2023
Focus groups/interviews/questionnaires exploring stakeholder views, experiences and conceptualized harms/benefits in relation to the proposed CF screening protocol incorporating NGS
3 secondary outcomes
Focus groups/interviews/questionnaires exploring stakeholder views on equivocal, carrier, false positives/negatives results, late onset/uncertain conditions
Time frame: February 2023
Q sorts used to develop data and materials FMCH and UK NSC can use to engage stakeholders
Time frame: February 2023
Surveys to explore principles of engagement for stakeholders
Time frame: February 2023
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 8 Mar 2024.
- Derived from this study: PubMed 40053726Moody L, Clarke S, Compton M, Hughson-Gill R, Boardman F, Clark C, Holder P, Bonham JR, Chudleigh J. Development of an Online Scenario-Based Tool to Enable Research Participation and Public Engagement in Cystic Fibrosis Newborn Screening: Mixed Methods Study. J Particip Med. 2025 Mar 6;17:e59686. doi: 10.2196/59686.
- Individual participant dataSharing planned: Undecided. Data are available on request from the corresponding author. The data are not publicly available due to ethical constraints
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystic Fibrosis, run by King's College London at 1 site in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 8 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 8 Mar 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Focus groups/interviews/questionnaires exploring stakeholder views of the proposed CF screening protocol incorporating NGS. (time frame: February 2023). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06299566, which also lists 1 linked publication.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 8 Mar 2024; AzTrials last refreshed its copy on 30 Oct 2026.