Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome
Status:
Unknown status
Trial end date:
2016-10-01
Target enrollment:
Participant gender:
Summary
Glucose transporter deficiency syndrome (Glut1-DS) is a form of pediatric epilepsy caused by
a genetic mutation that disrupts the body's ability to process food from the child's diet
into sugar (energy) needed to support brain function. Children with Glut1-DS experience
seizures that are not controlled by anticonvulsant medications, as well as delays in
cognitive and motor development. Currently, Glut1-DS is treated with the ketogenic diet, a
high-fat, low-sugar diet that provides the brain with an alternate source of energy. Despite
the significant improvement of seizures upon this diet, seizure control is incomplete in a
majority of children, and they continue to experience problems with brain development. Our
team of researchers and clinicians with expertise in metabolic diseases, neurology,
pediatrics, biochemistry, and genetics believes that there is an opportunity to achieve
CURE's goal of "No Seizures/No Side Effects" for children with Glut1-DS by investigating the
use of a new treatment option that is designed to compensate for the underlying biochemical
deficiency thought to contribute both to the seizures and to the impaired brain development
associated with Glut1-DS. The proposed treatment involves incorporating a special type of
oil, called triheptanoin, into the ketogenic diet as a way to make up for a specific
biochemical deficit affecting kids with Glut1-DS that the standard ketogenic diet fails to
address. Our goal is to do a pilot study to test the safety and effectiveness of this
promising new treatment option in a small group of children with Glut1-DS.