HMN 2025: How Liquid fat treatment offers hope for rare childhood disease

A liquid fat medicine has shown significant promise in reversing major health complications of rare degenerative disease Ataxia-telangiectasia (A-T).

Scientists from The University of Queensland and Wesley Medical Research found that a liquid fat supplement, triheptanoin, can reverse mitochondrial dysfunction and cell death in A-T patients.

Professor Dave Coman at UQ’s Children’s Health Queensland Clinical Unit said findings from a 1-year clinical trial mark a “huge jump forward” in treatment and improved quality of life. The study is published in the journal eBioMedicine.

“It’s a cruel disease across the spectrum, and there’s currently no cure or approved treatment,” he said. “However, our study has shown real improvements in quality of life with participants able to feed themselves and avoid choking on food, which is a big issue, particularly for adults.

“Their language improved so their intelligibility, volume of voice, the amount they talk and interact with people increased.

“Their fatigue levels improved remarkably—kids were able to participate in school, do therapies in the afternoon and participate in family life.”

A-T is a genetic neurodegenerative condition often described as the worst parts of cerebral palsy, muscular dystrophy, cystic fibrosis—with patients facing a 25% lifetime cancer risk.

Children appear healthy at birth, but balance and coordination decline at about age 2, with most needing a wheelchair by their teenage years.

Despite near normal cognition, the loss of functional skills leaves teenagers and adults dependent on others for everyday tasks.

Mitochondria produce energy within cells to power biological function, but patients with A-T rely on another way to make energy called glycolysis—and if glycolysis is less efficient, patient cells are more susceptible to stress.

“Mitochondria act like a spark plug for powering your cells and in A-T, for whatever reason, they’re not functioning efficiently,” Professor Coman said.

“With triheptanoin—like a car—we’re hot-wiring it to make it work.”

“It’s not a cure but prior to this we had nothing and all we could offer families was kindness and palliative care.”

Professor Coman said the prevalence of A-T varies around the world and is estimated to affect 1 in 100,000–300,000 people in Australia.

Recruitment in the clinical trial was offered to all known A-T Australian patients, with 31 people enrolled from age 4–37 years.

Emeritus Professor Martin Lavin from UQ’s Center for Clinical Research said the clinical trial showed triheptanoin improved mitochondrial function, targeting a core contributor to disease progression.

“We also found that using triheptanoin and a form of vitamin B3 called nicotinamide riboside reduced cell death in patients’ cells, suggesting a dual treatment for patients,” Professor Lavin said.

The study further identified two key biomarkers—neurofilament light chain and interferon gene signature—which could be useful for monitoring disease progression and treatment for the disorder.

“The disease is rare until it affects somebody you love,” Professor Coman said.

“There are things we can learn from this disease that are also translatable to more common disorders.”

The next step in the research is an international clinical trial exploring the effectiveness of triheptanoin and nicotinamide riboside as a joint treatment in collaboration with UQ’s partners in the Netherlands and Norway.

The trial also involved UQ’s Child Health Research Center and Australian Institute of Bioengineering and Nanotechnology alongside multiple institutes across Australia.