What is Glut1 DS?
Glucose transporter type-1 deficiency syndrome (Glut1 DS) is a rare genetic disorder.
The body moves glucose into the brain through a ‘vehicle’ called Glut1 transporter. This Glut1 vehicle is made by a gene called SLC2A1. In people with Glut1 DS, a mutation in this gene means that they cannot make the vehicle properly. Therefore, not enough glucose moves into the brain, which leaves the brain starving for energy.
Symptoms generally fall into three categories: seizures, development delays (delays in speech, learning to read, etc.), and movement disorders (difficulty walking, coordinating movement, balance, etc.). These clinical manifestations can also be common with other disorders and therefore it is important to accurately diagnose Glut1 DS prior to treatment. The diagnosis of Glut1 DS is often done by a blood test looking for a mutation of the SLC2A1 gene. A lumbar puncture (spinal tap) is also sometimes used to help in the diagnosis. The glucose concentration from the spinal fluid (fluid obtained from the lumbar puncture) is low in Glut1 DS patients.
Glut1 DS is a rare disease that affects between 3,000 and 7,000 people in the US.
Glut1 DS is also called DeVivo Disease, as it was first described by Dr. Darryl DeVivo in 1991.
There are currently no approved medicines for Glut1 DS. Many people with Glut1 DS manage their condition with a ketogenic diet (a specific high-fat, low carb diet), which generates an alternative energy source (called ketones) for the brain. The ketogenic diet is effective in reducing seizures but compliance can be difficult. The effectiveness of the ketogenic diet in the treatment of developmental delay and movement disorders has not been confirmed. Antiepileptic drugs (AEDs) are also used for seizure control, although they are less effective in Glut1 DS patients.
UX007, a highly purified synthetic seven carbon fatty acid triglyceride, is a new investigational treatment being studied. UX007 is designed to bypass the faulty vehicle in patients with Glut1 DS and potentially provide alternative energy sources to the brain.
If you are a member of a Glut1 DS patient organization and would like to be listed here, please contact us.
Ultragenyx is studying UX007, an investigational product, in seizure patients with Glut1 DS who are not on the ketogenic diet (KD). This may include patients who don’t respond to the KD (for example, they still have seizures) or they cannot follow the KD. Patients who are successfully on the KD under the care of their physician or nutritionist should remain on the KD.
For more information on the study, please visit the study page.
Ultragenyx is also in the process of planning a study of UX007 in patients with movement disorders associated with Glut1 DS.