Ultragenyx Announces Positive Data From Retrospective Study of UX007 Triheptanoin in Patients With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)

NOVATO, Calif., Sept. 16, 2013 (GLOBE NEWSWIRE) -- Ultragenyx Pharmaceutical Inc., a biotechnology company, announced the release of positive data from a retrospective protocol-driven medical record review of triheptanoin treatment of patients with long-chain fatty acid oxidation disorders (LC-FAOD). LC-FAOD patients have severe morbidity and mortality with frequent complications and hospitalizations. The study evaluated the impact of triheptanoin treatment on the rate and extent of hospitalizations in 20 of 24 patients who have been treated with triheptanoin for up to 13 years as part of a compassionate use protocol and consented to be part of the retrospective study. The study compared the incident rate for the major medical events before and after triheptanoin treatment, including the total number of hospitalizations and hospital days per year due to all causes, muscle rupture (rhabdomyolysis), hypoglycemia, or cardiomyopathy.

Data were presented by investigator Jerry Vockley, MD, PhD, chief of medical genetics and professor of pediatrics at Children's Hospital of Pittsburgh of University of Pittsburgh Medical Center, at the 12th International Conference of Inborn Errors of Metabolism (ICIEM 2013) in Barcelona. The study involved an intensive medical record collection and review of patients in a compassionate use program to capture major medical events available, during the period before and after initiation of treatment until the present time. A total of 120 individual charts were evaluated, which covered 241 years of patient data and included a total of 319 hospitalizations. The data showed that treatment with triheptanoin appeared to reduce the frequency and severity of hospitalizations but does not completely eliminate them. Specifically, overall mean hospitalizations per year showed a trend toward a reduction of 36% (1.94 to 1.26 events/year; p=0.113) and mean hospital days per year were reduced by 69% (17.55 to 5.40 days/year; p=0.024) following treatment in patients with at least 6 months of pretreatment data. The mean number of major events related to hypoglycemic episodes per year decreased 96% (0.92 to 0.04 events/year; p=0.009), while the mean hospital days per year decreased by 98% (8.42 to 0.18; p=0.026). For rhabdomyolysis events, there was no change in the mean rate of hospitalizations (1.05 to 0.68; p=0.460) but there was a trend towards a 64% decrease in mean hospital days per year (5.94 to 2.16; p=0.122).

"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.

About Ultragenyx

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.

CONTACT: Contact Ultragenyx Pharmaceutical Inc. 415-483-8800 For Media, Bee Nguyen bnguyen@ultragenyx.com For Investors, Shalini Sharp ssharp@ultragenyx.comSource:Ultragenyx Pharmaceutical Inc.