NCT07402434Not yet recruiting
A Prospective Study of Advanced Diagnostics in People With an Unclear Diagnosis of Cystic Fibrosis
Advanced Diagnostic Validation and Novel Clinical Evaluation Across the CFTR Spectrum (ADVANCE-CFTR): a Prospective Study of CFTR Functional Assays, Including Rectal Organoids, to Improve the Accuracy of Diagnosing Cystic Fibrosis.
Source: ClinicalTrials.gov · Last updated 17 Feb 2026
Brief summary (registry, in English)
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.
- Status (registry)
- Not yet recruiting
- Study type
- Observational
- Enrollment
- 80 (estimated)
- First submitted
- 4 Feb 2026
- Start date
- 2 Feb 2026
- Primary completion date
- 1 Jun 2028
- Lead sponsor
- Royal Brompton & Harefield NHS Foundation Trust
- Diseases
- Cystic fibrosis
- NCT number
- NCT07402434
What you commit to
- Study type: Observational
- Planned participants: 80
- From 2 Feb 2026 to the primary completion date, 1 Jun 2028
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Prior treatment
- 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)
- 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)
Other illness
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
- History of lung transplantation
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
- Contra-indication to rectal biopsy (e.g. significant bleeding diathesis)
Other
- Group A: Difficult Cystic Fibrosis Diagnosis Cohort
- Female who is pregnant or breastfeeding
- Unable to provide informed consent
- Group B: Cystic Fibrosis Patient Cohort
- 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
- Female who is pregnant or breastfeeding
- Unable to provide informed consent
Who the study is looking for
- Group A: Difficult Cystic Fibrosis Diagnosis Cohort
- 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
- 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
- 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
Age in the registry: 16 years to - · Sex: All · Accepts healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| Royal Brompton Hospital Coordinator of this site? Confirm its status | London | United Kingdom | Unknown status |
This page is information, not medical advice. Discuss any trial with your doctor.