Data were presented by investigator
"After 13 years of research with these 20 patients, I am excited by the results from the retrospective study," stated Dr. Vockley. "The formal retrospective study incorporates data from patients who have been on compassionate use protocols for the past several years, and validates the responses we have been observing anecdotally."
"The data from the retrospective study represents important progress toward developing an alternative treatment for LC-FAOD patients," Emil D. Kakkis, M.D., Ph.D., Ultragenyx's Chief Executive Officer commented. "The decrease in the rate of hospitalization events and days per year suggests that treatment with triheptanoin is effective in reducing the severe energy crises that affect LC-FAOD patients. The results support the need for further evaluation of UX007 in prospective clinical studies to verify this effect on the manifestations and major events of LC-FAOD disease."
Later this year, Ultragenyx plans to initiate an open-label Phase 2 study to assess safety and clinical effects of UX007 in subjects severely affected by LC-FAOD. The patients in the retrospective study will continue on treatment.
About LC-FAOD and UX007
Fatty acid oxidation disorders are a group of autosomal recessive genetic disorders characterized by metabolic deficiencies in which the body is unable to break down fatty acids into energy. It is estimated that several thousand patients are afflicted with FAOD in the US, where the fatty acid oxidation disorders are now diagnosed by newborn screening. It is also estimated that several thousand patients outside of the US are affected, where newborn screening for these disorders is becoming more common. LC-FAOD patients are currently treated by the avoidance of fasting, low-fat/high carbohydrate diets, carnitine supplementation and medium chain triglyceride (MCT) oil. Despite current therapy, many patients still have significant metabolic events including hospitalizations and significantly increased mortality due to LC-FAOD.
UX007 (triheptanoin) is a purified form of a specially designed synthetic triglyceride compound. UX007 is intended to provide patients with medium-length, odd-chain fatty acids that are metabolized to replace intermediate substrates in fatty acid oxidation downstream of their genetic block in fatty acid metabolism. UX007 is also metabolized to a substrate that replaces deficient intermediates in the TCA cycle, a key energy-generating process. UX007 can also support production of glucose and glycogen (gluconeogenesis) as well. Together, the substrates produced by UX007 during metabolism are intended to improve energy production in FAOD patients.
Ultragenyx is a privately held, clinical-stage biotechnology 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 www.ultragenyx.com.
Ultragenyx Pharmaceutical Inc.415-483-8800 For Media, Bee Nguyenbnguyen@ultragenyx.com For Investors, Shalini Sharpssharp@ultragenyx.com