Glut-1 Clinical Trial - Glucose Transporter Disorder can cause any one or a combination of seizures, ataxia, language delay, movement disorders.

Glucose Transporter Disorder can cause any one or a combination of seizures, ataxia, language delay, movement disorders. 

Ask your epilepsy specialist or neurologist if your child has has been tested for GLUT-1. It is a treatable condition. - Dr. Josh, Pediatric Neurologist - Epilepsy Specialist, Houston Texas

UX007G Triheptanoin for 

Glucose Transporter Type-1 Deficiency Syndrome

 (Glut1 DS)

Glut1 DS is caused by a mutation affecting the gene that codes for Glut1, which is a protein that transports glucose from blood into the brain. Because glucose is the primary source of energy for the brain, Glut1 DS results in a chronic state of energy deficiency in the brain. Patients with Glut1 DS experience seizures, developmental delay, and movement disorder. The majority of children with Glut1 DS experience problems with language, both in speaking and in understanding what is said to them. In older patients and in some less severe patients, motor dysfunction has been the dominant symptom.

There are currently no approved drugs or treatments specifically for Glut1 DS. The current standard of care is the ketogenic diet, an extreme high-fat (70-80% of daily calories as fat)/low carbohydrate diet, which is effective in controlling or reducing seizures of Glut1 DS in most cases. However, seizures are not completely controlled in all patients on the ketogenic diet, and many patients have difficulties complying with the diet. Some patients continue to have significant problems with developmental delay and motor dysfunction. Studies suggest a range of 3,000 to 7,000 Glut1 DS patients in the U.S.

The rationale for using triheptanoin as a therapeutic treatment for Glut1 DS is that triheptanoin is metabolized to heptanoate, which in turn is further metabolized to four- and five-carbon ketone bodies. These metabolites bypass the Glut1 transporter to cross the blood-brain-barrier and provide an alternative energy source to the brain. Heptanoate also crosses the blood-brain-barrier and can be converted to glucose. There are a number of third-party publications on triheptanoin that provide data on its efficacy in epilepsy models and its absorption and metabolism when administered intravenously and orally at doses up to 40% of recommended daily caloric intake.

LINK HERE for more information on this trial