UT Southwestern Medical Center has funded and created this registry in conjunction with a generous gift from the Glut1 Deficiency Foundation to collect data about Glut1 deficiency (G1D). Dr. Juan Pascual of UT Southwestern Medical Center will oversee the registry.
Purpose of the registry
This registry is being developed for several reasons. Very little is known about the natural history of this disease. By collecting information about the experiences of patients with G1D, the researchers hope to develop a better understanding of the course of this disorder. The researchers also hope that by developing a more complete understanding of G1D they will be better able to diagnose and treat it. Finally, fewer than 500 cases have been reported since G1D was identified in 1991. However, the number of affected individuals may actually be greater because it is believed that not only individuals who suffer from seizures, but also people with other types of neurological disabilities may have undiagnosed G1D. Our registry is an effort to reach those who are undiagnosed.
How you can help
By filling out the online questionnaire, you will be contributing valuable information about this disease that will guide researchers as they search for therapies and improved diagnostics. Your responses will also help researchers understand what is important to you as a patient or patient caregiver. This information will help guide future research and program development.
About Glut1 Deficiency
Glut1 deficiency syndrome is a rare genetic condition caused by an alteration or mutation in a gene that primarily affects the brain. Most affected individuals develop seizures within the first few months of life. These seizures are very difficult to treat with common anti-seizure medications. Other individuals suffer from severe and abnormal uncontrollable movements, with or without seizures. Symptoms range from mild deficits to severe impairment across a variety of functions.
Resources & Links
Rare.Diseases@UTSouthwestern.edu (for technical issues regarding the registry)