MRFF Clinical Trials - Rare Cancers, Rare Diseases and Unmet Need Grant. Ataxia-telangiectasia: treating mitochondrial dysfunction with a novel form of anaplerosis

A-T is a rare autosomal recessive disease with an incidence of approximately 3-in-one-million births. Patients with A-T are wheelchair bound by the end of the first decade and life expectancy is ~25 years, with neurodegenerative cerebellar ataxia, lung disease from immune deficiency, and cancer, accounting for a high mortality and disease burden. We aim to assess the effectiveness of triheptanoin in A-T patients via a phase 2A/B study with eligible patients being enrolled from our national life-span clinic.