The new Cystic fibrosis transmembrane conductance regulator (CFTR) modulators hold great promise as they are directly targeted at the defective CF gene. These are life-saving therapies and will reduce the need for lung transplants. Unfortunately, different CF mutations cause different defects and there are ~2000 different CF mutations. The therapies that have been developed so far are only given to people with specific mutations (many patients will not be approved for treatment based on the majority of mutations being excluded from the CFTR modulator clinical trials). Therefore, the solution to this problem is a personalised CFTR functional screening test to determine the likelihood of whether an individual patient with a given CF mutation will respond to a given drug.
There are currently three CFTR modulators approved in the US but only two in Australia (~$200,000 per patient per year). Although there are many more CFTR modulators (12 drugs undergoing trials) showing promise in current clinical trials, unfortunately they will never be trialled for every CF mutation and so many CF patients will miss out or not receive the optimal therapy leading to the need for a lung transplant.
To solve this problem we developed a pre-treatment CFTR functional screening test using revolutionary new stem cell technology to grow an individual patients tissues from their lung and colon ('mini-organs in a dish'). With our technology we have shown this can be done quickly (2.5 weeks from biopsy to test result), cheaply, and easily in the lab. We are then able to test the patient's response to various CFTR drugs. In only 6 months and with limited funding we have already validated this system on 3 cystic fibrosis patients in Newcastle and now seek to expand this trial to reach more patients.
This test has two major benefits: 1) It will match the right patient to the correct drug and hence enable patients to receive the most optimal therapy faster while saving healthcare costs. 2) In the future this test may enable some patients with other CF mutations, which were not included in the clinical trials, to be permitted to receive these new life-saving transplant-reducing therapies.
Our aim is to expand the use of this personalised CFTR functional screening test we have developed, to predict the response of more Australian CF patients to the new CFTR modulator therapies.
This project is a first of its kind precision medicine functional pre-screening study in Australia. Our long-term goal is to turn this into a standard test in the healthcare system to pre-screen all Australian CF patients to quickly and cost effectively deliver them the most optimal treatment in order to extend life expectancy and avoid lung transplantation."