Rare Daily Staff

Ultragenyx Pharmaceutical said it has submitted a New Drug Application to the U.S. Food and Drug Administration for UX007 for the treatment of long-chain fatty acid oxidation disorders, a group of genetic disorders in which the body is unable to convert long-chain fatty acids into energy.

The FDA previously granted Rare Pediatric Disease Designation and Fast Track designation to the company of UX007. The designations make the submission eligible for Priority Review if relevant criteria are met. Ultragenyx expects to hear back from FDA on submission acceptance and review designation within 60 days.

“Many patients with long-chain fatty acid oxidation disorders have difficult lives with frequent hospitalizations despite the best current care, and we believe our data suggest that treatment with UX007 can reduce these major medical events over a sustained period of time,” said Camille Bedrosian, chief medical Officer of Ultragenyx.

The NDA submission is supported by a comprehensive package of data including results from a company-sponsored phase 2 study of UX007 in 29 patients, a long-term safety and efficacy extension study in 75 patients including 20 patients who were previously naïve to UX007, a retrospective medical record review of 20 original compassionate use patients, 67 patients treated through expanded access, and a randomized controlled investigator-sponsored study of 32 patients showing an effect on cardiac function.

Long-chain fatty acid oxidation disorders (LC-FAOD) are a group of autosomal recessive genetic disorders in which the body is unable to convert long-chain fatty acids into energy. This inability can lead to severe depletion of glucose in the body, causing patients to experience acute metabolic crises during times of increased energy demand, such as common infections or moderate exercise.

These metabolic crises may manifest as serious liver, muscle and heart disease, and can lead to hospitalizations or early death. LC-FAOD are included in newborn screening panels in the United States and in certain European countries. Patients with LC-FAOD are currently managed through diet, but many patients still have significant metabolic events including hospitalizations and mortality due to LC-FAOD.

UX007, or triheptanoin, is a highly purified, pharmaceutical-grade, medium-chain triglyceride that directly addresses the deficiencies in LC-FAOD by providing patients with an alternative energy source that can be metabolized to increase intermediate substrates in the Krebs cycle, a key energy-generating process. Unlike typical even-chain fatty acids, one of the Krebs cycle intermediates generated specifically by UX007 also can be converted to new glucose, potentially providing an important added therapeutic effect, particularly when glucose levels are too low.

Photo: Camille Bedrosian, chief medical Officer of Ultragenyx

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