Professor Emma Rybalka, Researcher at Victoria University
My team’s research focuses on identifying and testing new treatments for rare inherited neuromuscular diseases. These diseases are usually diagnosed during childhood, quickly progress to becoming a significant disability, such as loss of ability to walk, swallow and breathe, and are often fatal. We are especially interested in muscle diseases involving disruption of energy production within muscle. For many of these diseases, there are no treatments available, making our research particularly urgent.
My research is currently focused on developing the first treatment for ultra-rare neuromuscular disease, adenylosuccinate synthetase 1 (or ADSS1) myopathy.
Muscles from individuals with this disease lack an enzyme (a protein that converts one or more molecules into another) involved in energy production. Without this enzyme, muscles progressively weaken and easily fatigue. We propose to replenish muscles with a drug version of the natural product of ADSS1 enzyme function – adenylosuccinic acid (ASA).
My team were recently successful in securing major research funding from the Australian National Health and Medical Research Council to test ASA, including in a small clinical trial to be run in the United States.
To date, approximately 200 individuals of Southeast Asian descent have been diagnosed with the disease. Given Melbourne’s west has a diverse and rapidly expanding ethnic population, it is possible that undiagnosed cases exist within our community. We hope that, if successful, this drug may also have a positive impact on a range or related muscular disease which affect many in our community.
Medicines are essential for the treatment of disease and should be available to all sick people, yet big pharmaceutical companies often ignore rare diseases because there are so few patients to sell their drugs to. We believe we are on the verge of a major medical breakthrough.
If this therapy can stop the progression of ADSS1 myopathy in its tracks as we suspect it can, people with this disease could be spared from a lifetime of disability, dependency and hardship. For individuals diagnosed with a rare disease where there are no treatments available, hope is so important.
Dr Cara Timpani, a Senior Research Fellow in my laboratory, is leading the ADSS1 myopathy research program involving a team of junior researchers. Currently, we are looking at which genes are switched on and off in response to ADSS1 myopathy. Using this data, Dr Timpani is developing complex disease maps that we can upload into artificial intelligence tools to identify existing medicines that could be useful to treat the disease.
We are excited to soon be receiving muscle cells from patients around the world to test whether ASA will ultimately be a useful human medicine. This will help support the case for our US clinical trial later this year.
