TPCH leads a global trial of breakthrough cystic fibrosis drug

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The Prince Charles Hospital (TPCH) Adult Cystic Fibrosis Centre is leading the worldwide trial of a breakthrough drug that could allow patients to live decades longer, by turning the acutely fatal disease into a manageable condition.

The groundbreaking CFTR (cystic fibrosis transmembrane conductance regulator) modulator drugs have the potential to revolutionise care worldwide by targeting the cause for the first time rather than managing symptoms, tricking the body's exocrine system into working more effectively and reducing excessive mucous that gathers on sufferers' lungs.

Making the drug more widely available is the cornerstone recommendation made by an international collaboration of cystic fibrosis (CF) experts led by globally-renowned researcher and senior Queensland Thoracic Physician, Professor Scott Bell, and Toronto-based expert Dr Felix Ratjen.

Professor Bell and Dr Ratjen were selected from a pool of experts worldwide, to assess the global health and economic challenges of CF over the next three decades and to provide the blueprint for care going forward. Professor Bell and Dr Ratjen’s team of 38 interdisciplinary contributors 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 on 29 September.

Professor Bell, who is Executive Director of Research at Metro North HHS and head of QIMR Berghofer Medical Research Institute’s Lung Bacteria laboratory, 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,” he said.

“Up to now treatment has always centred on the downstream consequences and symptoms such as mucous-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.”

The new therapy does not correct the mutated gene at DNA level, but manipulates it into working better in what Professor Bell describes as the most significant breakthrough since the condition was discovered in the 1930s.

"Patients report major improved quality of life, a massive increase in lung function and less infections. Much better than any of the system based treatments we have had until now. They are really having a major impact on the small number of patients being able to access the drugs," he said.

Director of the TPCH Adult Cystic Fibrosis Service and the head of the Lung Inflammation and Infection Laboratory at QIMR Berghofer, 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, diagnostic testing and treatment mean many patients are now living well in to 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,” he said.

Professor Bell said the biggest challenge now was making the therapy affordable with treatment for one patient for a year costing more than $250,000. Patients would need to take the tablets for the rest of their lives. Professor Bell hoped the drug would be approved by Australia's Therapeutic Goods Administration and funded by the Pharmaceutical Benefits Scheme within two years.

Dr Reid said it was an exciting time for the world's 90,000 sufferers. About 3,500 Australians have CF, with one in every 2,500 babies born with the disease.

"When I was a medical student, my only contact with cystic fibrosis was to see teenage people coming into hospital to die. When I retire we will be, I think, the last generation of physicians to see classical cystic fibrosis,” Dr Reid said.

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