Cystic fibrosis (CF) is a genetic condition affecting over 11,300 people in the UK – including 3,800 children and babies.[1] Newborn screening helps detect CF early, but some babies receive inconclusive results, creating uncertainty about their future health. Dr Rebecca Dobra of Imperial College London is aiming to identify ways to predict which of these children will remain healthy and which may later develop CF or a related condition. Her long-term goal is to enable doctors to provide tailored care for each child, reducing parental anxiety, avoiding unnecessary monitoring of healthy children, and enabling early intervention for those most at risk of developing disease.

This project is jointly funded by Action Medical Research and Cystic Fibrosis Trust.

How are children’s lives affected now?

Children with CF experience a build-up of thick sticky mucus in their lungs, digestive system and other organs, causing a variety of challenging symptoms. 

“In the UK, most children are diagnosed shortly after birth through newborn screening,” says Dr Dobra. “After a positive screening result, further tests are needed to confirm or rule out a diagnosis.”

Some babies receive a ‘Cystic Fibrosis Screen Positive Inconclusive Diagnosis’ (CFSPID), where a newborn screening result suggests they may have CF, but follow-up tests do not confirm it.² While most of these children will remain healthy, a small number may develop CF or a related condition as they grow older.

“Doctors will closely monitor children with CFSPID to detect and treat any emerging symptoms as early as possible,” says Dr Dobra. “However, it’s challenging to balance the risk of missing an evolving CF diagnosis against the risk of unnecessary medicalisation of healthy children.”

How could this research help?

In this study, a team of CF experts across London will follow 25 children with CFSPID for two years, comparing them with a similar group of healthy children.

“We will perform new and established non-invasive investigations, including lung function tests to assess the health of their airways – and advanced imaging scans to detect any early signs of lung damage,” says Dr Dobra. 

The team aims to identify which of these investigations can predict which children will develop CF-like symptoms, including lung disease. They will use these findings to inform the design of a larger study to build the evidence needed to shape future guidelines.

“Ultimately, our research could help improve the health and wellbeing of children with CFSPID and their families,” says Dr Dobra. “It will allow doctors to more closely monitor those most at risk of developing a form of CF while reassuring those who are likely to remain healthy.”

References

1. Cystic Fibrosis Trust, UK Cystic Fibrosis Registry 2023 Annual Data Report (October 2024). https://www.cysticfibrosis.org.uk/sites/default/files/2024-11/CFT_2023_Annual_Data_Report_Oct2024%201.pdf
2. Cystic Fibrosis Trust, CFSPID: https://www.cysticfibrosis.org.uk/what-is-cystic-fibrosis/diagnosis/cfspid 

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