A QIMR Berghofer researcher has co-led the development of a new global blueprint for the care of people with Cystic Fibrosis (CF), which could turn the acutely fatal genetic disorder into a manageable condition and allow patients to live decades longer.
The head of the Institute’s Lung Bacteria laboratory and Senior Thoracic Physician at The Prince Charles Hospital, Professor Scott Bell, and Toronto-based expert Dr Felix Rajten were selected from a pool of international experts to assess the global health and economic challenges of CF over the next three decades and to identify the best opportunities available for progressing treatment of the disease.
Professor Bell and Dr Ratjen’s team of 38 inter-disciplinary contributors have unveiled The Lancet Respiratory Medicine Commission on the Future of Care of Cystic Fibrosis: a global perspective at the European Respiratory Society Congress in Spain.
CF is the most common life-limiting genetic disorder for which there is no cure, with patients developing an abnormal amount of excessively thick and sticky mucous in the lungs, airways and digestive system.
About 3,500 people are living with the disease in Australia, according to Cystic Fibrosis Australia, and one baby is born with the disorder every four days.
Professor Bell said the cornerstone recommendation of the Lancet Commission for future treatment of the disease was making breakthrough, highly effective CFTR modulator drugs more widely available.
“These CFTR modulator therapies have the potential to revolutionise the care of CF by targeting the cause for the first time rather than managing symptoms. They could effectively stop the disease from becoming fatal for as many as 80% of patients, and that’s why we’re participating in a global clinical trial of the drug at Brisbane’s The Prince Charles Hospital,” Professor Bell said.
“Up to now treatment has always centred on the downstream consequences and symptoms such as mucus-clearing drugs and treatments, antibiotics and anti-inflammatories.
“However, recent advances in CFTR modulator therapies to address the basic defects of the CF gene have been phenomenal, making targeted, gene-specific drugs a reality.”
Head of QIMR Berghofer’s Lung Inflammation and Infection laboratory and director of the Adult Cystic Fibrosis Service at The Prince Charles Hospital, Dr David Reid, said centre-based care treatments including pharmacological interventions, advances in clinical care and organ transplantation had become relatively standard in high-income countries such as Australia.
“A diagnosis of CF used to be a death sentence by the age of ten, however advances in gene research, early diagnosis through newborn screening and treatment mean many patients are now living well into their forties, with those born in the 2000s even set to make it into their fifties,” Dr Reid said.
“The drugs we are now trialling however, could dramatically alter the natural history of this disease worldwide.”
While CF was always thought to be a primarily Caucasian disease, changes in diagnostic testing and advances in newborn screening have revealed that it is similarly prevalent in populations where it was so rare it attracted little to no attention, such as in Southeast Asia and across the African diaspora.
Professor Bell said it was anticipated that China could have the largest population of undiagnosed patients in the world, but little to no expertise or treatment options available, as yet.
“This is magnified even further for those in developing countries, who have almost no financial capacity to deal with it,” Professor Bell said.
“Put simply, if we don’t collaborate and bring to fruition our blueprint for care, hundreds of thousands of patients around the world could be at risk of missing out on the best available treatment.”
Other key findings and recommendations of the Lancet Commission:
- Improved genetic testing has allowed the identification of cystic fibrosis in non-European populations, and also in people with non-classical presentations of CF and related conditions.
- Children with CF are healthier than in previous decades and the vast majority are living well into adulthood.
- Future models of care need to consider treatment approaches (including monitoring) to maintain health and delay lung transplantation, while minimising the burden of care for patients and their families.
- Partnerships between lay organisations, governments, and the pharmaceutical industry are needed urgently to provide sustained, affordable access to cystic fibrosis therapies for people with CF living in developing countries.
- New CF gene modulator drugs are showing promise in up to 90% of patients, including in patients with CFTR mutations for which currently available therapies are ineffective.
- Early commencement of CF gene-directed therapies might prevent the establishment of irreversible airway complications and slow disease progression in children and adults with cystic fibrosis. Affordability of new therapies is an important consideration as they require huge investment to get from discovery to the clinic and are likely to be unaffordable in many health care systems.
- The complexity of care has increased for people with CF in parallel with increased life expectancy, leading to a substantial burden of care and monitoring. Novel technologies have the potential to support self-monitoring and shared decision making between patients and their health-care teams.