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Treatment for Long-Chain Fatty Acid Oxidation Disorders

Update: Dojolvi (triheptanoin) Now FDA Approved - June 30, 2020

Ultragenyx Investigational New Drug Application for Triheptanoin for the Treatment of Glucose Transporter Type-1 Deficiency Syndrome is in Effect

NOVATO, Calif., Dec. 17, 2013 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc., a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, announced today that its Investigational New Drug (IND) application filing for triheptanoin (UX007) for the treatment of glucose transporter type-1 deficiency syndrome (Glut1 DS) is in effect. The IND allows the company to proceed with its clinical development program for triheptanoin in Glut1 DS in the United States. The company plans to initiate a Phase 2 trial studying triheptanoin in Glut1 DS in the first half of 2014.

"Triheptanoin is now being advanced in two separate clinical programs targeting significant unmet medical needs," commented Emil D. Kakkis, M.D., Ph.D., Ultragenyx's Chief Executive Officer. "With the filing of this IND, triheptanoin will be evaluated as a potential treatment for Glut1 patients whose disease is not being effectively managed with current treatment."

The company plans to initiate a randomized, double-blind, placebo-controlled, parallel-group, adaptive Phase 2 clinical trial in the first half of 2014. The study will evaluate safety and efficacy in approximately 50 Glut1 DS patients between 3 and 17 years of age inclusive who are currently not on or not fully compliant with ketogenic diet. The primary efficacy objective is the reduction in frequency of generalized or partial-onset seizures compared to placebo. The blinded treatment period will be followed by an open-label extension period wherein all patients will be treated with triheptanoin through week 52. Targeted enrollment may be modified based on an interim analysis.

About Glut1 DS and Triheptanoin

Glut1 DS is a severely debilitating disease characterized by seizures, developmental delay, and movement disorder. Glut1 DS is caused by a mutation in the gene encoding the Glut1 protein, which is responsible for transporting glucose across the blood-brain barrier. Because glucose is the primary source of energy for the brain, this disorder results in a chronic state of energy deficiency in the brain. Glut1 DS is a rare disease. Studies suggest a range of 3,000 to 7,000 Glut1 DS patients in the United States. There are currently no approved treatments specific to Glut1 DS.

Triheptanoin is a specially designed synthetic triglyceride compound intended to provide patients with the medium-length, odd-chain fatty acid, heptanoate. Heptanoate can circulate and also be further metabolized to four- and five-carbon ketone bodies in the liver. All of these metabolites are able to cross the blood-brain barrier without using the deficient Glut1 transporter, and can provide an alternative energy source for the brain when glucose is limited. Heptanoate also crosses the blood-brain barrier and can be converted to glucose.

About Ultragenyx

Ultragenyx is a privately held, development-stage biopharmaceutical company committed to bringing to market novel products for the treatment of rare and ultra-rare diseases, with an initial focus on serious, debilitating metabolic genetic diseases. Founded in 2010, the company has rapidly built a diverse portfolio of product candidates with the potential to address diseases for which the unmet medical need is high, the biology for treatment is clear, and for which there are no approved therapies.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyx's strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the company's website at

Source: Ultragenyx Pharmaceutical Inc.

Posted: December 2013

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