Research studies

Cystic Fibrosis (CF) is the most common lethal inherited condition affecting our community. The gene abnormality on chromosome 7 is inherited in an autosomal recessive manner. The Australian population has a carrier frequency of 1/25, with CF affecting 1/2500 births. The majority of children born with CF will die from progressive lung disease in early to mid adulthood. Lung disease develops initially in the peripheral lung and progresses to bronchiectasis (airway wall destruction with airway dilatation). Once established, bronchiectasis is irreversible and progresses to respiratory failure and death in the majority of patients.

Newborn screening (NBS) for CF was introduced into Australia 30 years ago but only became national when introduced into WA in 2000. The premise underlying NBS is that early diagnosis before the onset of lung disease will improve clinical outcomes; however the promise of improved disease outcomes has not been fully realised. The most clearly demonstrated benefit from NBS in CF has been improved nutritional status, with no documented improvement in respiratory outcomes. Why has the introduction of NBS for CF not seen improved respiratory outcomes? One possibility is that children are still not being diagnosed and treated appropriately before the onset of destructive lung disease.

A major gap in our knowledge exists about when various components of CF lung disease begin. While lung disease clearly begins very early, we can not answer whether pulmonary inflammation in response to environmental exposures is an initiating event that predisposes to early acquisition of lower airway bacterial infections or whether infection occurs first and triggers inflammation. Longitudinal data tracking lung function from diagnosis following NBS have not yet been published. No group has reported data showing, on a population basis, the onset and progression of structural lung damage from birth in children with CF.

The AREST CF has developed a comprehensive research program aimed at the early detection of lung disease that involves assessment in the first months of life following detection by NBS annually until the age of 6 years. These data are used to understand how lung disease develops, optimize current clinical treatment, and design and test new preventative treatments to improve outcomes for children with CF.