HUNTER researchers hope to be able to help people with cystic fibrosis get on the right drug sooner, and they are using "mini organs" to do it.
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HMRI researcher Dr Gerard Kaiko said while there were drugs that could improve the quality of life and life expectancy of patients with cystic fibrosis (CF), they came at a cost.
"These drugs cost about $200,000 per patient, per year. But roughly, only about 50-to-60 per cent of CF patients can get access to these drugs. That's independent of the cost," he said.
Dr Kaiko said there was about 2000 different genetic mutations of CF, but only the most common mutations were included in clinical drug trials.
"So if you don't have one of those mutations, you're not approved for the drug. So there is a large chunk of cystic fibrosis patients who don't have automatic access to the drugs," he said.
Using "mini organs" grown from patient's stem cells, Dr Kaiko and his team hope to provide evidence to show that CF patients with "mutations" not put through the clinical trials might potentially respond to the drugs too.
"From a very small biopsy we take stem cells out of the intestinal tract or the lung, and grow them into what we call organoids, or mini organs," he said. "In cystic fibrosis, if we take a tiny little sample from the patient's colon, we can grow them into little mini guts, and if we take it from the nasal passages, they are like little mini lungs, or airway clusters.
"We put drugs on them that are currently on the market, or are in clinical trials for cystic fibrosis, and we can look at that patient's own cells and see if they respond to the drug.
"Our study is trying to provide evidence that we should look at this, as a clinical test, to say there are other patients that could respond to these drugs, besides the ones that are already proved."
Dr Kaiko said that while CF was the most common life-limiting "monogenic" disease in Australia, it was still rare.
"There are still one-in-2500, or less, individuals in Australia with it - diagnosed as babies - and at the moment, the life expectancy is about half what it is for an average individual," he said. "Because these drugs are so expensive, we really need to get the right patient on the right drug, first up. There are three of these drugs now, and there are more coming. So there is a lot of hope out there. But what we're going to have to do is know which patient should go on which drug. So this test could be a way of getting the right patient on the right drug sooner, without them having to undergo six-to-12 months of the clinician giving them the drug, and seeing what happens."
Dr Kaiko said they also used the stem cell technology to screen and identify new drugs for inflammatory bowel disease.
"There is other versions of this, where you can create mini kidneys, or mini hearts, mini livers, and then you can study diseases in those tissues," he said.
"The potential is, if you have rare paediatric diseases, you can take the sample from the patient and then study that patient's genetic disease in that patient's tissue-like cells.
"So you could do things with rare forms of inflammatory bowel disease that affect really young babies. You could grow out their mini guts and look at drug re-purposing - so screen them for drugs that are already safety approved on the market, and see if any of those drugs work for those patients - because pharmaceutical companies are not going to develop drugs for really rare diseases. They just won't."
Dr Kaiko said he was just one part of a "great team", including Professor Peter Wark on the respiratory side of the research, gastroenterologist Dr Thomas Goodsall, as well as Dr Lin Cheng, Dr Douglas Dorahy and Lorissa McGufficke.
