Not yet recruitingOBSERVATIONAL

A Prospective Study of Advanced Diagnostics in People With an Unclear Diagnosis of Cystic Fibrosis

This study focuses on improving how we diagnose Cystic Fibrosis (CF), especially for individuals where standard tests don't give a clear answer. This often happens with rare forms of the CF gene, leaving people without the right treatment for years. The researchers are developing a more accurate test using something called 'organoids,' or 'mini-organs.' These are grown in the lab from a tiny piece of gut tissue taken during a simple procedure. Because these mini-organs have the person's exact genes, they can show if the CF gene is working correctly. This new test will be compared with existing methods to prove it's better at diagnosing CF. A big advantage is that these mini-organs can also help doctors work out which medicines would be most effective for each person, leading to faster diagnosis and better, more personalised treatments for a healthier life.

At a glance

Status

Not yet recruiting

Sponsor

Royal Brompton & Harefield NHS Foundation Trust

Enrolment target

Start

02 Feb 2026

Estimated completion

01 Sep 2028

Cystic Fibrosis (CF)CFTR-related Disorders

What is this study about?

Imagine you have some symptoms, and doctors suspect Cystic Fibrosis (CF), but the usual tests aren't giving a clear 'yes' or 'no' answer. This can be very frustrating and can mean you don't get the right treatment for a long time, which might affect your health. This study is trying to help people in this exact situation, especially when their CF gene changes are unusual or rare.

Researchers are working on a new, more accurate way to diagnose CF. They do this by taking a tiny sample of tissue, usually from the gut, using a quick and generally not painful procedure called a rectal biopsy. From this tiny sample, they can grow what they call 'organoids' – think of them as 'mini-organs' – in the lab. These mini-organs contain your exact genetic information, so they can show how your CF gene is working. By testing these mini-organs, the scientists can tell if someone has CF more accurately than some of the current tests.

What's really exciting about these mini-organs is not just their ability to diagnose CF more clearly. They can also be used to test different medicines in the lab to see which one works best for that individual person. This means if the test shows you have CF, doctors could potentially find the most effective treatment for you much faster. The goal of this research is to prove that these 'mini-organ' tests are a better way to diagnose CF, leading to quicker diagnoses and better, more targeted treatments so people can live longer, healthier lives.

Key takeaways

This study aims to improve diagnosis for unclear CF cases.
It uses 'mini-organs' grown from a small gut sample for more accurate testing.
'Mini-organs' can also help find the best individual treatments.
The goal is faster diagnosis and better care, leading to healthier lives.
Participation involves a small gut tissue sample and blood tests.

Who may be eligible?

This study is looking for adults (aged 16 or over) who fall into one of three groups. Firstly, they are looking for people who are having difficulty getting a clear diagnosis of Cystic Fibrosis (CF), meaning that their current tests haven't definitively confirmed whether they have CF or not. This is a big focus of the study.

They also need two other groups for comparison. The second group includes adults who have already been diagnosed with CF. The third group includes adults who do not have CF or a related condition. For all these groups, you need to be willing to have a small tissue sample taken from your gut (a rectal biopsy).

There are some reasons why you might not be able to join. For example, if you have a condition that makes a biopsy risky, if you've had a lung transplant, or if you're currently taking certain CF medications or involved in another trial for CF treatments. Pregnant or breastfeeding women cannot take part, and everyone must be able to understand the study and agree to participate.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 16 years old or older?
Do you have an unclear diagnosis of Cystic Fibrosis, or confirmed CF, or do you not have CF?
Are you able to agree to have a small gut tissue sample taken (rectal biopsy)?
Are you NOT currently pregnant or breastfeeding (if female)?
Are you NOT taking certain CF medications or involved in a similar trial?

Answer every question to see your result.

What does participation involve?

If you decide to take part in this study, the main thing involved is having a small tissue sample taken from your gut. This is done through a procedure called a rectal biopsy, which is usually quick and relatively painless, often done as an outpatient (meaning you don't stay overnight in hospital). For those already having a camera test for other reasons, this sample might be taken at the same time.

Blood samples will also be taken for genetic tests related to CF. Besides these procedures, you'll have some standard medical assessments that are part of your usual care. There isn't a specific drug to take as part of this study, nor is there a set number of follow-up visits beyond what's usually needed for your medical condition. The total duration of your participation isn't specified, but it primarily involves providing the samples needed for the lab tests.

Potential risks and benefits

Taking part in this study offers potential benefits, particularly for those with an unclear CF diagnosis. It could help lead to a quicker, more accurate diagnosis and potentially identify the best individual treatments for you. This could improve your health and quality of life. As with any medical procedure, there are minor risks associated with the rectal biopsy, such as slight bleeding or discomfort. However, it's generally considered a safe procedure. Please remember that you are free to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (1)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Royal Brompton Hospital
Verified postcode
London, United Kingdom

Common questions

What is a 'mini-organ' (organoid)?

A 'mini-organ' is a tiny, scaled-down version of an organ, grown in a lab from a small piece of your tissue. It helps scientists study how your cells work, representing your body accurately.

What is a rectal biopsy?

A rectal biopsy is a quick procedure where a tiny piece of tissue is taken from the lower part of your gut using a small instrument. It's usually done as an outpatient and is generally not very painful.

Will this study give me new medication?

No, this study is focused on developing better diagnostic tests and finding which existing medications might work best for you. It's not testing new drugs itself.

What if I decide I don't want to participate after I've started?

You are free to withdraw from the study at any time, for any reason, without it affecting your medical care or relationship with your doctors.

Why is it important to get a clear CF diagnosis?

A clear diagnosis ensures you receive the correct and most effective treatments for your specific condition as early as possible, which is key for managing your health and living well.

How to find out more

Emma C Russell-Jones, MBBS

emma.russell-jones@nhs.net 02073528121 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.