Wesley Medical Research

Liquid Fat Supplement Shows Promise in Treating Rare Childhood Disease Ataxia-Telangiectasia

- A one-year clinical trial demonstrated that triheptanoin, a liquid fat supplement, can reverse mitochondrial dysfunction and cell death in patients with Ataxia-telangiectasia (A-T), a rare degenerative disease affecting 1 in 100,000-300,000 people in Australia. - The study enrolled 31 A-T 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.