Huge gains seen in life expectancy for Australians with cystic fibrosis

New data from the Australian Cystic Fibrosis (CF) Data Registry has underscored the rapid gains in life expectancy for Australians born with CF, revealing that the median survival increased from 49 years for those born in 2005-2009, to 56 years for those born in 2016-2020.

A few decades ago, a diagnosis of CF in a child generally led to a life characterised by repeated hospitalisation for respiratory infections, malnutrition, heart and pancreatic disease, and death before the opportunity to begin a family of their own. Parents facing a similar diagnosis now can often look forward to a long and fruitful life for their child.

Until 1989, survival past 39 years was almost unheard of, and as recently as 2005, the average age of death of someone with CF was 27 years.

The registry is one of Australia’s oldest clinical quality registries, initially created in 1998. It was migrated under the management of Monash’s School of Public Health and Preventive Medicine in 2016, joining the many other registries in our stable.

Dr Rasa RuseckaiteDr Rasa Ruseckaite is the Deputy Monash Academic Lead of the registry, and was lead author on the paper recently published in Scientific Reports. She says, “Few medical conditions have experienced the revolutionary gains in longevity seen in CF. It’s a real testament to what humankind can do when we put our minds to it, and it would be lovely to see it replicated across other disease states.”

So what’s behind the incredible improvements?

“I think the majority of gains boil down to improvement in care, and the development of genetic modulation therapies,” says Rasa. “These days we have a much greater understanding of the genetic and biological mechanisms that cause the symptoms in CF. That’s led to us being able to provide care that is more holistic, and accounts for all the bodily systems involved, and create targeted drugs to alleviate symptoms.”

CF is caused by one of a number of genetic alterations that may be passed down through family bloodlines, or occur spontaneously. They affect a gene called the CFTR gene, which manages the flow of water and chloride in and out of cells lining many of the body’s soft organs, including the respiratory, digestive and reproductive tracts. This creates a build up of sticky mucus across these surfaces, leading to recurrent respiratory infections that can be challenging to resolve, difficulties absorbing nutrients from food leading to nutritional insufficiency, damage to the pancreas and increased risk of diabetes, and fertility problems.

Diagnosis is often made within days of birth, through Australia’s newborn screening program.

“In the past the focus of care for children was often on the respiratory issues as those symptoms were the most prominent. These days we understand the systemic impacts of CF, and babies diagnosed now are also plugged into services for nutrition support, cardiac care, and endocrinology from the word go,” explains Rasa.

Genetic modulation therapies are drugs that aim to correct the malfunctioning protein generated by the altered CFTR gene. They help the protein fold into a more functional shape, allowing better transport of water and chloride in and out of cells. There are four currently available drugs, each targeting specific genetic mutations, with more in development.

In April last year, one of the newest and most effective of these drugs, Trikafta, was listed for rebate on the Australian Pharmaceutical Benefits Scheme for those 12 years and older, making it a more affordable option for families. A life-changing treatment is now available for hundreds of more children living with CF, following the Australian Therapeutic Goods Administration’s recent approval of Trikafta for those aged 6-11 years old.

Rasa says, “These drugs are extremely effective at alleviating the effects of the mucus, and therefore play a major role in the prolonged lifespans we are seeing. But because they are so new, they are incredibly expensive.

“A major benefit of the registry data we collect is that it can provide evidence to health policy-makers and financiers, so they can make clearly informed cost-benefit analyses as to the impact these new drugs are making, and the value they provide. It can be a great advocacy tool.

“Since the registry was housed at Monash we’ve done a lot of work harmonising the data with international registries, which has allowed us to compare the Australian experience with other comparable nations. We also pivoted during the pandemic to monitor the impacts of COVID-19 on the health and wellbeing of people with CF, as there are some obvious concerns regarding lung health there.

“It’s a very powerful tool, and we’re looking forward to future projects and collaborative activities by using this data to improve outcomes of people with CF and to reduce variation in outcomes among healthcare providers.

Find out more about the clinical quality registry program at Monash Public Health and Preventive Medicine.

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