The Glucose Transporter Type I Deficiency (G1D) Registry

Study ID
STU 062012-080

Cancer Related
No

Healthy Volunteers
No

Study Sites

  • UT Southwestern Ambulatory Services
  • Children's Medical Center-Dallas

Contact
Dorothy Kelly
214-633-1886
dorothy.kelly@utsouthwestern.edu

Principal Investigator
Juan Pascual

Summary

Glucose Transporter Type I Deficiency (G1D) is a genetic disorder diagnosed with increasing frequency thanks to advances in DNA testing. Patients with G1D often experience seizures that do not respond to treatment with medications, difficulties controlling their movements, and delays or permanent disabilities affecting language and learning. Very little is known about the full range of symptoms and frequency of G1D. A recent study has estimated the frequency to be as high as 1% of all patients with epilepsy. Dr. Juan M. Pascual, Dorothy Kelly (UT Southwestern researchers at the Rare Brain Disorders Clinic and Laboratory) and others in the Department of Neurology and Neurotherapeutics have created the first patient registry focused on understanding G1D. By collecting information from patients with G1D, they hope to improve our ability to diagnose and develop treatments for the disorder, by gaining a better knowledge of how the disease first presents, how it develops over time, and treatments that others may have found helpful or unhelpful. This registry is open to all patients who have received a diagnosis of G1D and their family members.

Participant Eligibility

1. Males and females
2. G1D diagnosis
3. Patients experiencing symptoms of G1D but who have not yet received a diagnosis are eligible to participate.

There is no exclusion based on age, race, or ethnicity.