Wesley Research Institute is home to a groundbreaking trial using triheptanoin, a dietary fat, to treat Ataxia-Telangiectasia (A-T), a rare degenerative neurological disorder.
This trial has shown promising results, with observed improvements in neurology scales and cellular biomarkers indicating the treatment’s effectiveness.
A-T combines progressive cerebral palsy-like symptoms, immune function problems similar to cystic fibrosis, and an increased risk of cancer. Currently, there is no cure for A-T, but the collaborative efforts at the Wesley Research Institute are providing new hope for affected families through innovative treatment options.
Professor Dave Coman, a renowned paediatrician specialising in metabolic medicine and genetics, has dedicated his career to caring for children with rare degenerative disorders. As a key figure at Queensland Children’s Hospital and the Wesley Research Institute, Professor Coman’s work has considerably advanced the understanding and treatment of rare diseases.
“Over the past decade, my association with Wesley Research Institute has been invaluable in developing access to rare disease research as part of their commitment,” said Professor Coman.
“This collaboration has been instrumental in establishing the national Ataxia-Telangiectasia clinic, which we run in conjunction with Queensland Children’s Hospital.”
The A-T clinic highlights the successful integration of clinical practice and research, providing a platform for translational research where clinicians and laboratory scientists work together.
“So, the plan is to keep treating these kids, but it’s a treatment, it’s not a cure. It’s something that modifies the disease and gives us more time while we find other specific treatments. It’s a very complex disease,” said Professor Coman.
“We’ve been able to look at stem cell work, brain organoids and other innovative approaches, leading to a successful treatment trial for A-T.”
Professor Coman explained that ‘hot-wiring’ mitochondria is central to the treatment.
“In A-T, mitochondria are starved due to a blockage in calcium transport, leading to cell collapse. Triheptanoin enters the mitochondria through an alternative pathway, effectively ‘hot-wiring’ them and improving cellular function. It’s like kickstarting a motorbike on a cold morning, and the results have been encouraging.”
The $2.46 million secured from the Medical Research Futures Fund (MRFF) has been crucial in advancing this trial. “This funding has allowed us to bridge the gap between basic science and clinical application, providing hope for Australians with rare diseases,” said Professor Coman.
“The MRFF has been a hammer stroke for science in Australia; it’s been profoundly useful, particularly for clinician researchers.”
The National A-T Clinic, established in 2007-2008 by Dr Kate Sinclair and later led by Professor Coman, has grown significantly.
“The clinic provides not only a research platform but also essential support for families,” he said.
“They like getting together and catching up because it’s a shared story and a shared journey.”
Recruitment for the trials has been facilitated by the national support group BrAshA-T, which coordinates contact among families.
“We have around 40 patients with A-T in Australia, and the majority are regular attendees at our clinic. The support from BrAshA-T has been invaluable,” said Professor Coman.
The multidisciplinary nature of the clinic is a key factor in its success.
“It is very much a multidisciplinary clinic, from a clinical point of view. The actual laboratory-based researchers come and intermingle with the families. That’s the culture of the clinic. It is very much a translational patient-led partnership with clinicians and researchers in the same space doing the same thing. You don’t cure a rare disease in silos.”
Looking ahead, Professor Coman sees the potential for further advancements in rare disease research.
“We are analysing data from our trials and exploring additional treatment options. While a phase three trial may be necessary for regulatory approval, our priority is to continue providing access to current treatments for our patients,” he said.
“There is a push towards gene therapy, but for complex diseases like A-T, repurposed medications and innovative approaches are essential. Our collaboration with international support groups ensures we continue making progress.”
For people interested in supporting this vital work, Professor Coman urged them to donate to Wesley Research Institute.
Your support is crucial in helping us provide better treatments and hope for children with rare degenerative diseases.
Professor Dave Coman