Liquid fat trial begins for children with rare genetic disorder

23 Mar 2022
David Coman and Martin Lavin
Professor David Coman and Emeritus Professor Martin Lavin

University of Queensland researchers will use a fat supplement to treat the rare genetic disorder Ataxia-Telangiectasia (A-T) as part of a national trial that begins today.

‘Liquid fat’ will be given to 40 children with A-T from across Australia to test if the supplement is clinically useful for treating the disease.

The research is being funded by a $2.46 million grant from the Australian Government’s Medical Research Future Fund, and builds on the work of Emeritus Professor Martin Lavin, from the UQ Centre for Clinical Research, who has been studying A-T for 40 years. 

UQ lead investigator and Wesley Medical Researcher, Professor David Coman said our earlier research found that Ataxia-Telangiectasia (A-T) is partly a ‘mitochondrial disease’, and ‘Liquid fat’ could correct all aspects of mitochondrial defect in A-T cells in the laboratory.

“We also found that reduced calcium flow to the mitochondria contributes to disease progression, which, until now, has only been measured anecdotally in individual children’s biomarkers.

“‘Liquid fat’ works by plugging into the mitochondria’ to kick-start cells and stop them from dying under stress," Professor Coman said.

“Children with AT are usually wheelchair-bound by the time they’re aged 10, struggling to breathe at 15 years old, and likely to die of cancer by the age of 25.

“Disease symptoms are like 'the worst parts of cerebral palsy, muscular dystrophy and cystic fibrosis combined, and put children at a higher risk of developing cancer and lung disease,” he said.

“This trial moves us a step closer to identifying a medical treatment for the disease and gives new hope to families and carers of children with A-T.”

The work is part of a collaboration between UQ, The Wesley Hospital and Queensland Children’s Hospital, and over the past decade has been investigating why healthy cells die faster under metabolic stress in people with A-T.

Wesley Medical Research Chief Executive Officer, Dr Claudia Giurgiuman said the trial could lead to an A-T medical treatment that is cost effective and life-changing for children with the disease.

“Wesley Medical Research has extensive experience with Australian families who live with A-T and provides support through its bi-annual A-T Super Clinics,” Dr Giurgiuman said.

“In such overwhelming circumstances, having a sense of community is extremely important to these families and our A-T Super Clinics provide much-needed information, support, and a sense of hope.

“We are grateful to organisations such as BrAsh-AT Foundation and Rare Voices Australia who also provide support to A-T families, and to the Queensland Children’s Hospital for their ongoing contribution.”