A Prospective Study of Advanced Diagnostics in People With an Unclear Diagnosis of Cystic Fibrosis
Starting soon
Conditions studied: Cystic Fibrosis (CF), CFTR-related Disorders
In brief
Sometimes it is very difficult to tell if someone has cystic fibrosis (CF), especially when they have rare CF genes. Without this certainty, they are unlikely to get the correct treatment so their health may be affected. More accurate ways to test for CF are therefore needed in this situation. The aim of this study is to develop a more accurate test using what are called "organoids" or "mini organs." Organoids are grown in the laboratory from a small piece of gut tissue. As they have the person's exact genes, they can show if the CF gene ("CFTR") is working correctly or not and thus if the person has CF. The investigators will compare the organoid response with the current more established tests, such as the sweat test and CF genetics, and other recognised specialist tests called nasal potential difference (NPD) and intestinal current measurement (ICM). The gut tissue is usually taken by a quick, relatively painless, outpatient procedure (rectal biopsy). The additional benefit of organoids is that they can also help us to work out the best treatment for that individual by testing how well the gut tissue responds to different drugs in the laboratory. The investigators wish to carry out this research to prove that gut organoids are a better way to test for CF in this situation. The goal will be to diagnose people faster and for them to get better treatment quicker, both key for leading a longer and healthier life.
Key facts
- Study ID
- NCT07402434
- Run by
- Royal Brompton & Harefield NHS Foundation Trust
- People needed
- 80
- Starts
- 2026-02-02
- Expected to finish
- 2028-09-01
- Last updated by the study team
- 2026-02-17
Who can join
Age: 16 and older. Sex: any. Healthy volunteers: accepted.
You may qualify if…
- Group A: Difficult Cystic Fibrosis Diagnosis Cohort
- Inclusion criteria:
- Patients with difficult-to-diagnose CF*
- Adults (≥16y)
- Willing to undergo rectal biopsy
- Able to comply with the study
- Definition: Non-diagnostic first line CFTR testing (individuals who do not fulfil CF diagnostic criteria [2 CF-causing CFTR variants and/or sweat chloride concentration ≥60 mmol/L]). Of note, there are some individuals with <2 CF-causing CFTR variants after extended CFTR genetic analysis but with a SCC >60mmol/L. Expansion of the patient pool to include these is permissible.
- Group B: Cystic Fibrosis Patient Cohort
- Inclusion criteria:
- Patients with confirmed Cystic Fibrosis
- Adults (≥16y)
- Willing to undergo rectal biopsy for this study
- Able to comply with the study
- Group C: Non-Cystic Fibrosis Patient Cohort
- Inclusion criteria:
- Patients without Cystic Fibrosis or CFTR-related disorder
- Adults (≥16y)
- Willing to undergo rectal biopsy for this study (if undergoing a lower GI endoscopy for other purposes)
- Able to comply with the study
You may not qualify if…
- Group A: Difficult Cystic Fibrosis Diagnosis Cohort
- Exclusion criteria:
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
- History of lung transplantation
- Receiving CFTR modulator treatment
- Current participation (or participation within one month of enrolment) in a clinical trial of an investigational medicinal product which affects CFTR function (e.g. CFTR modulators, genetic therapies)
- Female who is pregnant or breastfeeding
- Unable to provide informed consent
- Group B: Cystic Fibrosis Patient Cohort
- Exclusion criteria:
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
- Current participation (or participation within one month of enrolment) in a clinical trial of an investigational medicinal product which affects CFTR function (e.g. CFTR modulators, genetic therapies)
- Female who is pregnant or breastfeeding
- Unable to provide informed consent
- Exclude all subjects where diagnosis of CF is in doubt
- Group C: Non-Cystic Fibrosis Patient Cohort
- Exclusion criteria:
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
- Female who is pregnant or breastfeeding
- Unable to provide informed consent
Where it is running
- Royal Brompton Hospital — London, United Kingdom
Full record on ClinicalTrials.gov
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