UX007 (a highly purified, synthetic seven carbon fatty acid triglyceride) is an investigational pharmaceutical-grade, specially designed synthetic triglyceride compound, created via a multi-step chemical process and purified, which is in development for glucose transporter type 1 deficiency syndrome (Glut1 DS).
Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay, and movement disorders. Glut1 DS is caused by a genetic defect in the transport of glucose into the brain. Because glucose is the primary source of energy for the brain, this disorder results in a chronic state of energy deficiency in the brain.
There are currently no FDA approved treatments specific to Glut1 DS, though patients with the seizure phenotype are typically on the ketogenic diet. Patients are also typically treated with antiepilepctic drugs (AEDs) for seizure control, although the seizures of Glut1 DS may not respond well to AEDs.
Ultragenyx has licensed rights to UX007 from Baylor Research Institute and UniQuest.
Mechanism of Action
UX007 is metabolized into heptanoate, which is intended to diffuse across the blood-brain barrier and provide energy to the brain. Heptanoate can be further metabolized to four- and five-carbon ketone bodies in the liver that can also cross the blood-brain-barrier to potentially provide an additional energy source to the brain. Heptanoate and five-carbon ketone bodies may also regenerate new glucose in the brain, which is deficient in patients with Glut1 DS.
News & Other Information
- Ultragenyx Announces Update to UX007 Development Program in Glucose Transporter Type-1 Deficiency Syndrome (link)
- Ultragenyx Granted Additional Orphan Drug Designations for Triheptanoin (link)
- Results of clinical study of triheptanoin in Glut1 DS paraoxysmal movement disorders - AAN 2015 (pdf)
- Results of clinical study of triheptanoin in Glut1 DS absence seizures - JAMA Neurology 2014 (link)