Ultragenyx Pharmaceutical Inc. announced that it has in-licensed rights for triheptanoin, a promising treatment for long-chain fatty acid oxidation disorders (FAOD), from Baylor Research Institute in Dallas, TX. Triheptanoin is intended as a substrate replacement therapy to restore deficient intermediates in the mitochondria and to enable energy metabolism in patients with FAOD and potentially other genetic metabolic disorders. Fatty acid oxidation disorders are a group of autosomal recessive diseases characterized by metabolic deficiencies in which the body is unable to break down fatty acids into energy.

Triheptanoin, also known as UX007, is a specially designed synthetic compound intended to provide patients with medium-length, odd-chain fatty acids that are metabolized to replace intermediate compounds of the tricarboxylic acid (TCA) cycle, a key energy-generating process. Several thousand people are afflicted with long-chain FAOD in the US. FAOD are also now included in newborn screening panels.

Approximately 100 patients are diagnosed with the 4 most common long-chain FAOD diseases each year in the US. In investigator-led research published in scientific journals, triheptanoin has been shown to reduce rhabdomyolysis (muscle rupture), hypoglycemia (low blood sugar), and cardiomyopathy (heart weakness and failure), among other symptoms in a variety of FAOD. More than 100 adults and children affected by FAOD or other energy diseases have been treated to date with triheptanoin, including 22 patients who have remained on treatment for up to 10 years.