Project to improve treatments for children's muscle diseases

Friday, 22 September, 2023

Project to improve treatments for children's muscle diseases

An Australian biobank will be established to improve and discover treatments for children with genetic muscle diseases.

Co-led by Murdoch Children’s Research Institute, Monash University and Alfred Health, the National Muscle Disease Bio-databank will advance research into understanding why children develop genetic muscle diseases.

The national research team will study the genes, cells and proteins in patient samples to understand how muscle is affected by disease. Housed at Murdoch Children’s Research Institute, the databank will store blood test and skin biopsy samples from children across Australia with genetic muscle diseases.

Genetic muscle diseases, spanning dystrophies and myopathies, are characterised by severe muscle weakness, usually from infancy, that impacts swallowing and breathing and leads to eye problems and learning difficulties. The project forms part of a $2.5 million Medical Research Future Fund grant awarded to the team for research into congenital muscle diseases.

Murdoch Children’s Dr Peter Houweling said there was an unmet need for affordable treatments that could be fast-tracked into clinical trials.

“This bio-databank will advance our knowledge of disease mechanisms and has the real potential to discover new and better treatments and fast-track discoveries.”

“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,” said Monash University’s Professor Peter Currie, noting that genetic muscle disorders have one of the highest disease burdens and that treatments have remained unaffordable for most families.

“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.”

Alfred Health’s Professor Catriona McLean said a major hurdle to advancing outcomes was understanding the underlying molecular basis of the diseases, coupled with a need for patient-specific models to develop and test therapies.

“Much of this clinical uncertainty stems from a lack of insight into the disease, which requires innovative thinking and investment into additional programs that can advance beyond genomics.”

A national, multidisciplinary network including paediatric neurologists, pathologists, scientists and patient advocacy groups have been assembled for the biobank project. Key collaborators include the Australian Neuromuscular Disease Registry, the Women’s and Children’s Hospital in Adelaide, Monash Health, the University of Melbourne, The Royal Children’s Hospital, Children’s Health Queensland, Sydney Children’s Hospitals Network, The Harry Perkins Institute in Western Australia, Muscular Dystrophy Australia and the Fred Liuzzi Foundation.

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