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An affordable diabetes drug could save generations of Australian families who live with polycystic kidney disease from kidney failure.
A University of Queensland research team has been awarded $2.57 million in federal funding to run a clinical trial on the effectiveness of the low-cost diabetes medication, metformin, and its role in autosomal dominant polycystic kidney disease (ADPKD).
UQ Faculty of Medicine and Institute for Molecular Bioscience lead researcher Associate Professor Andrew Mallett said finding viable treatment options for this painful, invisible illness had been a ‘labour of love’ due to a historical lack of awareness and funding of the disease.
“Until now there have been limited treatment therapies for patients with ADPKD, but we’re hopeful metformin could be an easy, low-cost solution for patients,” Associate Professor Mallett said.
“ADPKD begins in childhood and young adulthood with kidney cyst growth, and over decades culminates in enlarged painful kidneys, early-onset hypertension and chronic kidney disease.
“It is the fourth-leading cause of kidney failure that results in people having to go on dialysis, globally.
“Walking down the street, you couldn’t tell who suffers from this disease, but it is extremely debilitating and affects each person, even within the same family, differently.”
The rare hereditary disease has a 50 per cent chance of being passed on to children – it does not skip a generation.
Many of those affected may experience regular pain and high blood pressure while over half may develop kidney failure by the time they are 60 years old.
Previous laboratory studies overseas showed metformin was effective in decreasing cyst formation and growth in models of ADPKD. This clinical trial is the next step in translating those findings into a potential treatment for patients.
Manager of PKD Australia Dr Charmaine Green said the clinical trial offered hope for the millions of families worldwide affected by the disease, including herself and her two children.
“Repurposing a medication that is already readily available like metformin means this treatment can be expedited because we know it is safe and has minimal side-effects,” Dr Green said.
“Only one treatment therapy for polycystic kidney disease is currently available and this is not suitable for everyone. Research and clinical trials that deliver new treatments are needed.”
People living with the condition face a crippling symptom burden of pain, anxiety, depression and poor quality of life.
Dr Mallett and his team are looking to recruit 300 patients to the trial that they believe will give a lot of hope to the community, commencing early 2021.
The trial will be coordinated by the Australasian Kidney Trials Network, and people can register their interest for the trial at aktn@uq.edu.au
This research has been funded under the Medical Research Future Fund’s Rare Cancers, Rare Diseases and Unmet Needs grants scheme, the PKD Australia and the BEAT-CKD Program.
Source: Media: UQ Communications, communications
We are excited to announce that the Federal Health Minister Greg Hunt MP announced that the first drug to treat ADPKD, JINARC® (Tolvaptan) will be available on the Pharmaceutical Benefits Scheme (PBS) from 1 January 2019 for eligible patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).
This will provide Australians living with the most common life-threatening genetic kidney disorder affordable access to the first effective treatment to slow the decline of the disease, saving patients around $23,000 a year. This is a historic moment in providing hope to patients with polycystic kidney disease.
There are approximately 25,000 Australians living with ADPKD, a disease which causes thousands of cysts to grow within the kidneys, ultimately causing kidney failure, leading to dialysis or transplant.
Charmaine Green, 30-year-old Manager of PKD Australia, is living with ADPKD and has a toddler also with the disease, said “As a parent of a child with PKD I vividly remember seeing the ultrasound that confirmed tiny cysts growing in my son’s kidneys. People with this disease live with uncertain futures as their kidney function deteriorates. Research and clinical trials that deliver new treatments are welcome and I hope that this is just the beginning of new treatments available to treat PKD.”
Research has shown that vasopressin, a hormone that regulates fluid balance, contributes to the growth of kidney cysts in ADPKD. JINARC® (Tolvaptan) blocks the action of vasopressin and has been shown to reduce the rate of kidney decline in 2 large international kidney trials that included more than 100 Australians.
Peter Bardadyn, 55 years from Adelaide has a long history of PKD in his family and received Tolvaptan as part of the clinical trial, said “My Grandfather collapsed on the kitchen floor at 48. My Mum had an unsuccessful transplant in 1974, passing at 49. I’m almost 56 with 4-6 years before dialysis would be contemplated, so I’ve been lucky. This occurred for me in 2007 when I was offered the Tolvaptan trial as one of first in the country.”
It important to note a significant number of patients may not be able to tolerate JINARC® due to side effects including increased thirst and urine output. About 5% of patients on tolvaptan develop abnormalities in the blood tests to assess liver function. These are typically mild and reversible when tolvaptan is stopped, but some patients can develop more serious liver injury.
Peter said “At first it took a little acclimatisation but nothing dramatic at all…the toughest thing is checking into a hotel overseas for work and having to explain I need 6 bottles of water each night! …Both my children carry the gene and so when I agreed to the trial I knew that regardless of whatever happened to me, they would ultimately benefit. For me, the release of the drug means that every Mum and Dad out there in my situation will know that, today, the future for their afflicted children is now a little brighter.”
PKD Australia, the only organisation dedicated to finding treatments and a cure for PKD in Australia, would like to thank the patients involved in the Tolvaptan clinical trial and the PKD community whose voices helped the Pharmaceutical Benefits Advisory Committee (PBAC) reach a positive recommendation for the first treatment of ADPKD in Australia.
Helen Coolican, who worked to set up PKD Australia 4 years ago, has long dreamed of the possibility of a cure for PKD, said “PKD took my husband from us when our youngest was still at school. He’s missed graduations, weddings and most recently the birth of our first grandson. Now, for the next generation, which includes our four children, there is an option that could reduce the years sacrificed to this disease.”
Recognising the burden of PKD on families, Robert Gardos, Chairman of PKD Australia, commented, “Finally there is hope.”
Check out the patient video: https://youtu.be/jcpxZd8fPnU
Patient data collected through registries has been used to evaluate important outcomes in patients with Autosomal Recessive PKD (ARPKD), highlighting the importance of registries to determine best practice for patients and to inform research.
ARegPKD is an international registry that aims to gather the largest collection of detailed longitudinal data on clinical ARPKD courses worldwide, in order to contribute to the fight against this life-threatening disorder(1). Comprehensive prenatal, perinatal, and postnatal information was captured from 385 patients from ARegPKD and analysed for potential risk markers for dialysis during the first year of life. Identifying these risk factors may be helpful in prenatal parental counselling in cases of suspected ARPKD(2).
Conducting studies in rare diseases such as ARPKD and paediatric ADPKD are by nature difficult for many reasons. Registries can help determine optimal management plans and are an important aspect in the path forward for PKD. In the research of rare disease, patient registries have been described as the best tool to close the gap between research and therapeutics(3).
References
1. https://www.aregpkd.org/index.php?id=about_arpkd
2. Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. Burgmaier, KathrinRanguelov, Nadejda et al. The Journal of Pediatrics, Volume 199, 22 – 28.e6
3. EURODIS NORD CORD, Joint Declaration of 10 Key Principles for Rare Disease Patient Registries
PKDA was a signatory last year on a call to the Federal Government to make dialysis more accessible for indigenous patients.
Representing PKDA at the meeting, Helen and Robert heard from experts and indigenous patients that the pressures of undergoing long-term dialysis far from home, away from their families and cultural commitments, can be so great for some Indigenous patients that they would rather die. Patients said that many people were dying a lonely death in cities and towns because of the poor accessibility of treatment centres in remote communities.
Helen expressed her shock and disappointment: “It’s a renal emergency. Why is it happening, and why has it existed for so long?”
Now, the Government has pledged to spend $57.8 million for dialysis in remote communities to help Indigenous patients stay at home.
Helen and Robert said of the Indigenous Patients Voices Forum at the time “it’s been an amazing privilege to be here, especially today, and to hear all of your stories. They’re so powerful and so moving, and I think it takes tremendous courage to stand up and speak from the heart as so many people have done.”
It was the voices, hard work and determination of these strong people and communities, their carers and their supporters that has led to this great outcome, a step towards equitable outcomes for all kidney patients.
The new trial, using water to treat PKD, known as PREVENT-ADPKD is led by Dr Annette Wong, Carly Mannix, Professor David Harris and Dr Gopi Rangan at the Westmead Hospital and the Westmead Institute for Medical Research.
The trial will investigate whether drinking the right amount of water can prevent adult polycystic kidney disease (ADPKD) progressing to kidney failure.
“A positive study result will show that water is a cheap, safe and effective treatment,” Dr Rangan explained.
Story originally published by the Westmead Institute for Medical Research, republished on our website with their permission. Photo: Dr Gopi Rangan and his team from the Westmead Institute and the Westmead Hospital from Westmead Medical Research Foundation
Dr Amali Mallawaarachchi, a genomics researcher in the ‘Genomics and Epigenetics’ Division at the Garvan Institute of Medical Research, was awarded one of PKD Australia’s four enabling grants last year.
The aim was to develop a new test that uses whole genome sequencing (WGS) to diagnose autosomal dominant polycystic kidney disease (ADPKD). Sequencing genes to determine a causative mutation in ADPKD is difficult using traditional gene sequencing methods.
This is due to six ‘pseudogenes’ – which are non-functional genes, almost identical in DNA sequence to the causative genes. Dr Mallawaarachchi and a team of clinicians and scientists trialled WGS and found it more detailed and accurate than current testing. This has led to the establishment of a genetic test for Australian ADPKD families. More accessible genetic testing will allow patients to be diagnosed sooner, allow families to better inform their family planning decisions, help to predict prognosis and allow better selection of living kidney donors for kidney transplantation.
In the long term, improved genetic testing will accelerate our understanding of the underlying cause of ADPKD – an important step in finding a cure. To read Dr Mallawaarachchi final report please see here.
Murdoch Children’s Research Institute has just been awarded winner of the 2016 UNSW Eureka Prize for Scientific Research. Kidney disease affects 1 in 10 Australians, with kidney failure increasing at 6% per annum. Recognising the urgent need for new treatment options, Professor Melissa Little and Dr Minoru Takasato have recreated human kidney tissue from stem cells, opening the door to disease modelling, drug screening, and ultimately replacement organs. Polycystic Kidney Disease & Chronic Kidney Disease researchers are very excited at this wonderful award winning discovery.
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