An Australian first biobank is being established with the goal of advancing research and uncovering novel therapies for children afflicted by genetic muscle disorders, including muscular dystrophy.
The National Muscle Disease Bio-databank, co-led by Murdoch Children’s Research Institute, Monash University, and Alfred Health, is set to propel scientific investigations aimed at unraveling the reasons behind the onset of genetic muscle disorders in children. This initiative is an integral component of a research endeavor funded by a $2.5 million AUD grant from the Medical Research Future Fund, dedicated to the exploration of congenital muscle diseases.
These conditions, which include dystrophies and myopathies, are marked by profound muscle weakness typically present from infancy. This weakness can affect essential functions like swallowing and breathing, as well as cause issues with vision and learning. In Australia, approximately 30 individuals are diagnosed with congenital muscular diseases each year, with half of them having a known genetic cause.
Dr. Peter Houweling from the Murdoch Children’s Research Institute emphasized the existing gap in the accessible treatments that could be expedited for entry into clinical trials.
“Knowledge is limited because Australia lacks a dedicated databank for congenital muscle disorders,” he said. Each state undertakes genetic testing via local services but there is no national database that matches clinical information with genetic diagnosis.”
To tackle this issue, the biobanking center located at Murdoch Children’s Hospital will gather patient data and preserve blood test and skin biopsy specimens from children throughout Australia who are affected by genetic muscle disorders.
“To understand how muscle is affected by disease, our research team will study the genes, cells and proteins in patient samples using cutting-edge technologies,” he said. 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.”
According to Professor Peter Currie from Monash University, genetic muscle disorders impose a significant disease burden, greater than that of cancer and multiple sclerosis on an overall scale, and greater per case compared to any other disease.
“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,” he said. For many years, medical therapies have been out of reach for most families, with a primary focus on providing comfort and preserving the functionality of the respiratory, cardiac, and mobility systems.
“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.”
Professor Catriona McLean from Alfred Health pointed out that a significant challenge in improving outcomes involves grasping the fundamental molecular causes of diseases, along with the requirement for patient-specific models to develop and test treatments.
“Despite almost two decades of genomic diagnostics in the clinic, patients and families are still left with few answers and ineffective treatment options for disorders that can be fatal in infancy or early childhood,” she said.
“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.”
Bindushree Pathre’s daughter Ivani, who is 4 years old, received a diagnosis of congenital muscular dystrophy when she was just four months old.
“As a newborn, she started to lose weight, couldn’t suck and was very lethargic,” she said. We were shattered when genetic testing confirmed the muscular dystrophy diagnosis. We have no idea how long her life expectancy will be so we have to take one day at a time and cherish every moment.”
Bindushree mentioned that due to Ivani’s weak muscle strength and weakened immune system, they steered clear of circumstances that might expose Ivani to respiratory infections.
“We are on high alert for anything that could make Ivani sick,” she said. We haven’t travelled back to India to see family since she was born because we don’t want to risk any health issues. She is immobile and will eventually need a wheelchair. She doesn’t have the strength to feed herself or even open the cap off a pen. But despite her challenges, she tries her best to be independent.”
Bindushree mentioned that her daughter undergoes weekly therapy sessions, which encompass physiotherapy, hydrotherapy, and speech therapy. Additionally, there is a possibility that her daughter may need surgery as she grows older.
However, she expressed that the biobank dedicated to muscle diseases instilled in her a sense of optimism regarding the potential development of new treatments.
“Muscular dystrophy is poorly understood and there isn’t enough awareness,” she said. This biobank gives me hope for my daughter, and if not, hopefully for another family in the future. I wish one day that no other parent has to hear their child has muscular dystrophy and watch as their condition keeps getting worse as they age with no treatment available. It’s heartbreaking and no parent should have to endure that pain.”
A comprehensive nationwide network has been formed for the biobank project, bringing together experts from various fields such as pediatric neurology, pathology, scientific research, and patient advocacy groups. This collaborative effort includes prominent partners like 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.