Liquid Fat Supplement Shows Promise in Treating Rare Childhood Disease Ataxia-Telangiectasia
Key Insights
A one-year clinical trial demonstrated that triheptanoin, a liquid fat supplement, can reverse mitochondrial dysfunction and cell death in patients with Ataxia-telangiectasia (search) (A-T (search)), a rare degenerative disease affecting 1 in 100,000-300,000 people in Australia.
The study enrolled 31 A-T (search) patients aged 4-37 years and showed significant improvements in quality of life, including better feeding ability, improved speech intelligibility, and reduced fatigue levels that allowed children to participate more fully in school and family activities.
Researchers identified two key biomarkers for monitoring disease progression and found that combining triheptanoin with nicotinamide riboside (vitamin B3) reduced cell death, leading to plans for an international clinical trial testing this dual treatment approach.
A liquid fat supplement has demonstrated significant therapeutic potential for patients with Ataxia-telangiectasia (search) (A-T (search)), a rare genetic neurodegenerative disease that currently has no cure or approved treatment. Scientists from The University of Queensland and Wesley Medical Research found that triheptanoin can reverse mitochondrial dysfunction and cell death in A-T patients, marking what researchers describe as a "huge jump forward" in treatment options.
Clinical Trial Results Show Quality of Life Improvements
The one-year clinical trial enrolled 31 A-T (search) patients ranging from 4 to 37 years of age, representing all known Australian patients with the condition. Professor Dave Coman from UQ's Children's Health Queensland Clinical Unit reported substantial improvements across multiple functional domains.
"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," Professor Coman said. "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."
Understanding A-T and Its Devastating Impact
Ataxia-telangiectasia (search) affects an estimated 1 in 100,000-300,000 people in Australia and is often described as combining the worst aspects of cerebral palsy (search), muscular dystrophy (search), and cystic fibrosis (search). Patients also face a 25 percent lifetime cancer (search) risk. While children appear healthy at birth, balance and coordination begin declining around age 2, with most patients requiring wheelchairs by their teenage years.
Despite maintaining near-normal cognition, the progressive loss of functional skills leaves teenagers and adults dependent on others for everyday tasks. "It's a cruel disease across the spectrum, and there's currently no cure or approved treatment," Professor Coman noted.
Targeting Mitochondrial Dysfunction
The therapeutic approach addresses a fundamental cellular energy problem in A-T (search) patients. While healthy cells rely on mitochondria (search) to produce energy for biological functions, A-T patients depend on an alternative energy production pathway called glycolysis, which is less efficient and makes cells more susceptible to stress.
"Mitochondria (search) act like a spark plug for powering your cells and in A-T (search) for whatever reason they're not functioning efficiently," Professor Coman explained. "With triheptanoin – like a car – we're hot-wiring it to make it work."
Emeritus Professor Martin Lavin from UQ's Centre for Clinical Research confirmed that the clinical trial demonstrated triheptanoin's ability to improve mitochondrial function, targeting a core contributor to disease progression.
Dual Treatment Strategy and Biomarker Discovery
The research revealed additional therapeutic potential when combining triheptanoin with nicotinamide riboside, a form of vitamin B3. "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 also identified two key biomarkers – neurofilament light chain (search) and interferon gene signature (search) – which could prove valuable for monitoring disease progression and treatment response.
Future Research Directions
Building on these promising results, researchers are planning an international clinical trial to explore the effectiveness of triheptanoin and nicotinamide riboside as a combined treatment. This expanded study will involve collaboration with partners in the Netherlands and Norway.
Professor Coman emphasized the broader implications of this research: "The disease is rare until it affects somebody you love. There are things we can learn from this disease that are also translatable to more common disorders."
The trial involved multiple Australian institutions including UQ's Child Health Research Centre and Australian Institute of Bioengineering and Nanotechnology, with funding from the Medical Research Future Fund Australia, The University of Queensland, Wesley Research Institute, and charitable foundation BrAshA-T. The findings were published in the journal eBiomedicine.