Detecting cystic fibrosis liver disease before it causes serious damage

Project Duration – 2 years

What is the research about?

Cystic fibrosis (CF) is not only a lung disease it can also impact on the liver and CF-related liver disease impacts around 10% of people with CF. Some people will progress to advanced liver scarring and require a liver transplant. One of the key challenges is that current tests do not reliably identify liver disease in its earliest stages, when there may still be an opportunity to prevent or slow further damage.

Professor George Yeoh and his team have previously identified a group of proteins in the blood that can distinguish early from advanced liver scarring in people with CF. This research will investigate whether these proteins can identify warning signs of liver disease before it can be diagnosed using current clinical tests.

The team will analyse blood samples collected from children with CF before liver disease is identified and monitor the proteins over time. They will look for changes in proteins that may provide an early warning of disease progression.

If successful, this research could lead to a simple blood test that helps health teams identify people with cystic fibrosis at greater risk, which would allow for more targeted monitoring and make earlier treatment decisions.

Why does this matter for people with CF?

CF-related liver disease is the third leading cause of death in CF and the leading non-lung-related cause of mortality.

For people who develop advanced liver disease, life expectancy can be reduced by an estimated 6–10 years. Detecting liver disease earlier could create an important opportunity to intervene before irreversible liver damage occurs.

This is particularly important for children with CF, when the risk of developing liver disease is highest and there may be more opportunity to prevent or delay disease progression. It could also help health care teams make more informed decisions about monitoring and treatment for everyone with CF.

The research may also have an important role in decisions about CFTR modulator treatments. These medicines can significantly improve outcomes for people with CF, but can also cause liver injury in some people. A better understanding of an individual’s liver health and risk could help clinicians make safer, more personalised decisions about treatment.

What will the research do?

The research team will:

• Analyse serial blood samples collected from people with CF who later developed liver disease, alongside matched samples from people who did not.
• Investigate whether the protein blood test can identify those with early signs of liver disease before it is clinically diagnosed.
• Search for other blood proteins that might improve detecting who is most likely to develop progressive liver disease.
• Test the most promising biomarkers using a targeted laboratory method that has the potential to be cost-effective and easily used in clinical pathology laboratories.

What could happen next?

The research will provide important evidence about whether the protein panel can detect CF-related liver disease before it becomes clinically apparent with standard tests.

If the results are promising, the next step will be a larger, prospective study involving multiple CF centres across Australia to further validate the test and establish how accurately it predicts liver disease.

The team also plans to work with people with CF, consumer organisations and clinical partners to shape how the test could be best used in practice. At the same time, the researchers will explore intellectual property and commercialisation opportunities, with the longer-term goal of making the test available through established clinical pathology laboratories.

The ultimate goal is earlier detection, more informed clinical decisions and the opportunity to prevent or delay serious liver disease before irreversible damage occurs.