Experimental Treatment for GLUT1 Deficiency Syndrome Falters in Clinical Trial

According to a story from Biospace, the biopharmaceutical company Ultragenyx Pharmaceutical Inc. recently reported that its experimental product UX007 failed to achieve its primary endpoint in a recent clinical trial. UX007 was being tested as potential treatment for paroxysmal movement disorders that occur as a result of GLUT1 deficiency syndrome. Ultragenyx specializes in the development of innovative therapies for severe rare genetic diseases.

About GLUT1 Deficiency Syndrome

GLUT1 deficiency syndrome, also known as De Vivo disease, is a genetic disorder of the metabolism which is characterized by a deficiency of the protein GLUT1. This protein plays the important role of transporting glucose across the blood-brain barrier. The disease is caused by a genetic mutation that usually appears spontaneously, although it also possible to inherit the mutation as well. As glucose provides vital energy to fuel brain development and function, this syndrome causes debilitating symptoms such as seizures, small head size, spasms, ataxia, dystonia, developmental delays, difficulty walking, and intellectual disability. Symptoms can vary in their severity. Treatment options are limited; a ketogenic diet is recommended as first-line treatment. This can reduce the severity of symptoms and can help provide the brain with a different source of energy. More options are direly needed. To learn more about GLUT1 deficiency syndrome, click here.

A Swing and a Miss

Unfortunately, UX007 failed to display in meaningful therapeutic effect in comparison to placebo. In this Phase 3 trial, the treatment was unable to meet any of its primary or secondary endpoints. Representatives from the company expressed their dismay and disappointment at the results, as the experimental treatment had appeared to have some potential based on data from prior research. The trial recruited a total of 44 adult and child patients.

With these disappointing results, Ultragenyx plans to abandon their goal to develop UX007 as a treatment for GLUT1 deficiency syndrome. However, UX007 itself will remain an active product candidate for the company as it is also in development for treating long-chain fatty acid disorders. The US Food and Drug Administration (FDA) has accepted the company’s proposal to submit a new drug application (NDA) for UX007 as a treatment for long-chain fatty acid disorders.


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