Avatars a game changer for children with Cystic Fibrosis

Mini gut and lung ‘avatars’ created in the laboratory are set to transform the way experts understand and treat children with Cystic Fibrosis (CF), the most common life limiting genetic disease affecting Australian children.

Around one in 25 people unknowingly carry a mutation in the gene that causes CF. Every four days, a baby is born with CF and with the best available treatments to date is only expected to survive to the age of 38. 12 year old Ruby was diagnosed with CF at 6 weeks old and has been in treatment ever since.  Severely affecting the lungs and digestive system, CF sufferers require intensive, ongoing medical treatment and physiotherapy.

Through the miCF Research Centre, the new Australian CF Avatar Platform uses gut and respiratory tissue from patients with CF to create miniature 3D organ models (organoids), which act like an avatar for each child. Grown in petri dishes in the UNSW laboratories, each child’s avatar is tested to see how it responds to various medicines. Its reaction predicts how a child will respond to a drug.

Ruby was one of the first patients to take part in this research initiative having her own organoid grown and tested to see how it responded to various medicines. When organoids are exposed to a drug that is capable of correcting the faulty CF salt channel, the avatar swells up. The amount of swelling correlates the child’s clinical response to the medication.

For Ruby and her family, taking the right drug for her genetic makeup has been life changing.

Professor Adam Jaffe, Respiratory Specialist and project lead says this platform will help clinicians develop personalised treatment programs, ensuring children receive best value healthcare, with the best drug for their CF.

“Each person has their own unique genetic background and while one may respond well to a specific medication, another may not. This is an exciting time in CF as three new treatments that are able to directly modify the disease are now available in Australia, with many others in the developmental pipeline. This means choosing the right drug for each child is the challenge. Our CF Avatar Platform will be able to do that.” Professor Jaffe said.

miCF laboratory group leader and senior research associate at UNSW Dr Shafagh Waters says “We have collected the tissue samples of more than 163 CF patients from SCH, and have successfully created individual avatars which are being tested on the miCF Avatar platform.”

“We ultimately hope to make our CF Avatar Platform available to all patients with CF in Australia,” added Prof Jaffe.

"Similar personalised medicine platforms have shown remarkable success in other areas of healthcare, such as cancer, with CF platforms in use overseas. Moving away from a one size fits all model of care is vital if we are to improve the health and life expectancy of individuals with CF,” said Prof Jaffe.

“Our hope is that children with CF live to old age and are only inconvenienced by taking a couple of pills a day.” 

Paedatrio, NSW Health, Sydney Children’s Hospitals Foundation, The Rebecca L. Cooper Medical Research Foundation and CF Australia have contributed to the CF Avatar Platform’s ongoing development.