Ultragenyx Pharma (RARE) Presents Data on Patients With Cardiomyopathy Treated with UX007

September 1, 2015 9:10 AM EDT

Ultragenyx Pharmaceutical Inc. (NASDAQ: RARE), a biopharmaceutical company focused on the development of novel products for rare and ultra-rare diseases, today announced the presentation of open-label data from five infants with cardiomyopathy due to long-chain fatty acid oxidation disorders (LC-FAOD) treated with triheptanoin (UX007). Severely affected LC-FAOD patients can present early in life with severe cardiomyopathy, arrhythmia, heart failure, hypoglycemia, hepatic dysfunction, and rhabdomyolysis that can lead to death. The data were presented at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium in Lyon, France.

"Some LC-FAOD patients can progress to severe and life-threatening cardiomyopathy while on standard of care," commented Sunil Agarwal, M.D., Chief Medical Officer of Ultragenyx. "We are encouraged by the preliminary results presented at SSIEM indicating the potential to help these severely affected patients."

Case reports from five infant patients with moderate or severe cardiomyopathy due to LC-FAOD were presented. All patients were detected by newborn screening and managed with standard treatment, including medium-chain triglyceride oil. While on the standard of care, the patients were hospitalized with heart failure that required cardiac support (ventilation, ECMO, vasopressors) and, in some cases, resuscitation. The patients discontinued medium-chain triglyceride oil and then began to receive triheptanoin on an expanded access basis.

All patients demonstrated an improvement in ejection fraction (EF), a measure of cardiac function evaluated by echocardiogram, after treatment with triheptanoin. The improvements in EF began between two days and three weeks following initiation of treatment with triheptanoin and were associated with stabilization of the clinical signs of cardiomyopathy in these patients. Additionally, EF continued to improve or was maintained with further treatment. In patients with known EF values before and after treatment (n=4) the mean EF prior to triheptanoin was 32% (range: 21% to 44%) and after treatment at last assessment was 66% (range: 55% to 71%).

The most common adverse events were gastrointestinal distress, including loose stools. One patient discontinued treatment after approximately 14 weeks due to gastrointestinal symptoms. No other significant tolerance issues or treatment-related adverse events were reported. Four of the patients continue to receive triheptanoin. These data are from an expanded access program and are based on open-label uncontrolled treatment, which limits definitive conclusions about efficacy and safety.

Ultragenyx is conducting a separate Phase 2 study of triheptanoin in patients with LC-FAOD. The musculoskeletal and liver manifestations of the disease represent the most prevalent symptoms in the patients enrolled in the Phase 2 study. Data from the study are expected by the end of 2015.

Orphan Designation Granted in Europe

In addition to the previously granted orphan medicinal product designation of Very Long-Chain Acyl-CoA Dehydrogenase (VLCAD) deficiency, the European Commission has recently granted orphan medicinal product designation for triheptanoin for the treatment of three other subtypes of LC-FAOD: Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase (LCHAD) deficiency, Trifunctional Protein (TFP) deficiency, and Carnitine Palmitoyltransferase II (CPT-II) deficiency. These four subtypes are estimated to represent more than 90% of the patients born with LC-FAOD each year.

The European Commission grants orphan drug status for medicinal products intended to treat diseases or conditions that affect fewer than five in 10,000 people in the European Union. The designation provides certain benefits and incentives in the EU, including protocol assistance, fee reductions, and ten years of market exclusivity once the medicine is on the market.

Ultragenyx already holds orphan drug designation for triheptanoin for the treatment of LC-FAOD from the U.S. Food and Drug Administration (FDA), as well as for the treatment of glucose transporter type-1 deficiency syndrome (Glut1 DS) from both the U.S. FDA and European Commission.

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