Help and Hope for the Glut1 Deficiency Community

 

The Glut1 Deficiency Foundation has a Research Grant Program to help fund projects with direct relevance to better understanding, improved treatment, and potential for a cure for Glut1 Deficiency.

Thanks to the generous support of family and friends of Glut1 Deficiency patients, the G1D Foundation has awarded over $475,000 in research grant awards since its beginning.  Find out more about some of the projects and researchers below, and see our announcement of the most recent 2016 recipients of research grant awards.



Glut1 Deficiency Patient Registry

www.G1DRegistry.org

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. The registry is also an effort to reach those who are undiagnosed.

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.  Your information is confidential, private, protected, secure, and the registry is free from commercial interests.  Please consider participating by adding whatever information you can.



UT Southwestern Rare Brain Disorders Program

Overview of completed, active, and pending Glut1 Deficiency research projects at UT Southwestern
Q & A with Dr. Juan Pascual

Triheptanoin studies at UTSW



Columbia University Medical Center Colleen Giblin Lab

Overview of Glut1 Deficiency projects at Columbia University
Q & A with Dr. Darryl De Vivo and Kris Engelstad


 

clinicaltrials.gov

listings for current and future clinical studies for Glucose Transporter Type 1 Deficiency Syndrome

The Glut1 Deficiency Foundation urges prospective clinical trial participants to carefully examine each project, its purpose, its informed consent paperwork, and the protocol for the study in order to make the most informed decisions.  Changes in care and decisions about clinical trial participation should be made under the guidance of trusted healthcare professionals knowledgeable about Glut1 Deficiency and familiar with individual patient needs.  Learn more about clinical studies from the National Institutes of Health here.



Triheptanoin (c7 oil)

Triheptanoin is being studied for use in treating a variety of conditions.  Food grade triheptanoin has been investigated as a potential treatment for Glut1 Deficiency by Dr. Juan Pascual and Dr. Charles Roe at UT Southwestern and this work has been supported with research grants from the Glut1 Deficiency Foundation.   Animal study data has been reported, and human study data has been recently published.  You may also find a press release from UT Southwestern highlighting some of the findings.

Dr. Juan Pascual has announced plans for further clinical studies on the use of triheptanoin (C7) in Glut1 Deficiency patients.  These studies address new questions and will be carried out as part of a grant from the National Institute of Neurological Disorders and Stroke (National Institutes of Health) and the Glut1 Deficiency Foundation. Please visit the link below for additional information and contact details for those interested in participating in the study.

Triheptanoin studies at UTSW

 

Recently a pharmaceutical company has begun work, including clinical trials, to develop a filtered version of triheptanoin (UX007) as an orphan drug to treat Glut1 Deficiency and Long Chain Fatty Acid Oxidation Disorders.

Triheptanoin FAQ
Special Statement on Clinical Trial Recruitment

 



Ketone Supplement Animal Studies

University of South Florida Morsani College of Medicine is the site for preliminary safety and efficacy animal studies using ketone salt compounds as an alternate or enhanced energy source with Glut1 deficient mice.  Dr. Dominic D’Agostino is the principal investigator.
Q & A with Dr. Dominic D’Agostino

The University of Salerno is also conducting animal studies with a ketone salt compound.  The research project will involve the Wistar rat epilepsy model and will measure safety and efficacy in controlling seizures.  Dr. Giangennaro Coppola, Dr. Andrea Viggiano and Dr. Raffaele Pilla are the investigators.
Q & A with Dr. Raffaele Pilla



Newly forming G1D Research Consortium

The G1DRC includes an international array of non-profit medical research and patient care institutions in partnership with patient advocacy organizations with the sole mission of working together to improve the availability of G1D information and world-wide resources, treatment, clinical studies, and general awareness for both patients and the medical community.


New Blood Test for Glut1 Deficiency

We were happy to welcome Vincent Petit and Luc d’Auriol to our conference in Nashville.  We appreciate the opportunity to share more information about this exciting new test through a Question and Answer session.
Q & A with METAFORA



New Research Opportunity

Dr. Umrao Monani, a researcher at Columbia University Medical Center, is interested in learning more about Glut1 Deficiency patients who do not have an associated gene mutation. Studying the causes and mechanisms of the disease in these patients will lead to a better understanding of Glut1 deficiency and inform future treatments for all individuals afflicted with the disorder.

If you would like to learn more about how you could participate, please contact Dr. Monani for more information.

um2105@cumc.columbia.edu



Recent Publications