Congenital disorders
Monash-led national program to improve treatments for kids with muscle
Sep
21 September 2023
A national clinical consortium has joined forces to improve care outcomes for children born with congenital muscle disease, led by Monash University’s Professor Peter Currie.
Enabled by a $2.5million Medical Research Future Fund grant received in 2021, the ‘Australian functional Diagnostics platform for Advancing Personalised Treatment of Congenital Muscle Disorders’ (ADAPT-CMD) research team will develop a national functional diagnostic program that aims to deliver an individual treatment pipeline for every Australian child born with congenital muscle disease.
ADAPT-CMD will do so through the coordinated efforts of a national network of scientists, clinicians, patients and families, conduct further research to close the knowledge gap on the molecular basis of muscle disorders and undertake precision medicine approaches through drug-testing in disease models.
Australia’s foremost muscle disease experts, who collectively diagnose and treat 90 percent of congenital muscle disorders in Australia, have come together for the first time to leverage, integrate and build upon existing patient genomics, clinical databases and registries to create a national patient resource. This approach will not only enable all patients access to the best and most advanced treatments, but will maximise existing funded research and platforms, including the Australian Neuromuscular Disease Registry.
The clinical information gathered will inform the development and use of advanced disease modelling using zebrafish and mice. These models will be used to understand how a specific mutation causes disease and to develop diagnostic tools and targeted therapies that can be fast-tracked into clinical trials.
The National Muscle Disease Biobank, housed at Murdoch Children’s Research Institute, will also be established to store blood test and skin biopsy samples from children across Australia with genetic muscle disease, giving the research team ready access to the genes, cells and proteins needed to advance their knowledge of disease mechanisms.
Community engagement with patient advocacy groups, many of whom have been longstanding partners of members of the consortium, will continue to be an integral pillar of the collaborative patient care model being developed.
Dr Peter Currie said that despite advances in genomic diagnostics, there is still a significant unmet need for effective treatment options for patients, many of whom are babies or young children when diagnosed.
“Genetic muscle disorders have one of the highest burdens of disease, greater than that of cancer and multiple sclerosis and greater per case than any other disease,” he said.
“The financial cost per year for genetic therapies and loss of productivity for those with muscular dystrophy is $435 million due to a lack of effective treatments. For decades, treatments have remained unaffordable for most families and are primarily palliative aimed at maintaining mobility, respiratory and cardiac functions.
“Congenital muscle diseases are also arguably the most individually impactful with many patients having a poor prognosis, requiring lifelong supportive care including mobility and respiratory support and in severe cases are inevitably fatal.”
“ADAPT-CMD is aiming to change this by developing targeted, affordable and individulised treatments, leading to better lives for patients and their families.”
Participating institutions include Monash University, University of Melbourne, Murdoch Children’s Research Institute, Alfred Health, Children’s Health Queensland Hospital and Health Service, Monash Health, Sydney Children’s Hospitals Network.
For more information about ADAPT-CMD, visit the website.
About Monash University
Monash University is Australia’s largest university with more than 80,000 students. In the 60 years since its foundation, it has developed a reputation for world-leading high-impact research, quality teaching, and inspiring innovation.
With four campuses in Australia and a presence in Malaysia, China, India, Indonesia and Italy, it is one of the most internationalised Australian universities.
As a leading international medical research university with the largest medical faculty in Australia and integration with leading Australian teaching hospitals, we consistently rank in the top 50 universities worldwide for clinical, pre-clinical and health sciences.
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