Research and Clinical Trial News
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. The G1DF has awarded $814,000 in research grant awards since its beginning. These grants are made possible through the generosity of our donors - friends, family members, classmates, teachers, neighbors, teammates, and others who are inspired by someone they love and care about who is affected by Glut1 Deficiency.
Find out more about some of the projects and researchers below.
2020 research grant awards
2019 research grant awards
2017 research grant awards
2016 research grant awards
previous year research grant awards
Find out more about some of the projects and researchers below.
2020 research grant awards
2019 research grant awards
2017 research grant awards
2016 research grant awards
previous year research grant awards
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 Glut1 Deficiency, 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 Glut1 Deficiency they will be better able to diagnose and treat it. Finally, fewer than 500 cases have been reported since Glut1 Deficiency 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 Glut1 Deficiency. 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.
A first paper has been published on the registry, including data from 181 patients. In-depth analysis and evaluation will continue.
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.
A first paper has been published on the registry, including data from 181 patients. In-depth analysis and evaluation will continue.
Glut1 Deficiency Biobank Repository at Coriell
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The Glut1 Deficiency Foundation and Glut1 Deficiency families are helping facilitate the establishment of a biobank repository at Coriell Institute for Medical Research. The first of the biobank samples have been processed and validated and are ready and available in the catalog, including iPSC, fibroblasts, and lympoblastoid cell lines.
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More sample submissions are welcomed and encouraged so more mutations (genotypes) and disease presentations (phenotypes) can be represented. If you are a patient/family and would like to find out more about contributing samples to the biobank, please contact Sherryann Wert or Jose Santana at Coriell.
Collaborative Research Activities
The Glut1 Deficiency Foundation is pleased to be members of several collaborative organizations who are working to share resources, information, and strategies to help better support patients and families and drive research progress.
Rare Epilepsy Network (REN)
COMBINEDBrain
Chan Zuckerberg Initiative Rare As One Network
Rare Epilepsy Network (REN)
COMBINEDBrain
Chan Zuckerberg Initiative Rare As One Network
Clinical Trials
Clinicaltrials.gov for current and future clinical studies for Glucose Transporter Type 1 Deficiency Syndrome
Disease InfoSearch Clinical Trial Listings
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.
Disease InfoSearch Clinical Trial Listings
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.
Overview of completed, active, and pending Glut1 Deficiency research projects at UT Southwestern
Q & A with Dr. Juan Pascual
Triheptanoin Studies at UT Southwestern
Rare Diseases Brain Bank at UT Southwestern
Q & A with Dr. Juan Pascual
Triheptanoin Studies at UT Southwestern
Rare Diseases Brain Bank at UT Southwestern
Overview of Glut1 Deficiency projects at Columbia University
Q & A with Dr. Darryl De Vivo and Kris Engelstad
Q & A with Dr. Darryl De Vivo and Kris Engelstad
Gene Therapy
There is ongoing work in the early stages for gene therapy to correct the defective gene (SLC2A1) in Glut1 Deficiency patients. Teams at Columbia University Irving Medical Center and from a collaborative group of researchers in Japan have published on some of the efforts.
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
Ultragenyx, a pharmaceutical company, conducted clinical trials to develop a filtered version of triheptanoin (UX007) as an orphan drug to treat Glut1 Deficiency. Those trials have been terminated after UX007 failed to meet endpoints for both a seizure focused study and also one for movement disorders.
Triheptanoin FAQ
Special Statement on Clinical Trial Recruitment
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
Ultragenyx, a pharmaceutical company, conducted clinical trials to develop a filtered version of triheptanoin (UX007) as an orphan drug to treat Glut1 Deficiency. Those trials have been terminated after UX007 failed to meet endpoints for both a seizure focused study and also one for movement disorders.
Triheptanoin FAQ
Special Statement on Clinical Trial Recruitment
University of South Florida Morsani College of Medicine has been 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 and the Glut1 Deficiency Foundation has funded several phases of this work. Dr. D'Agostino has several publications on his work.
Q & A with Dr. Dominic D’Agostino
The University of Salerno has also conducted animal studies with a ketone salt compound. The research project was funded by the Glut1 Deficiency Foundation and involved the Wistar rat epilepsy model and will measure safety and efficacy in controlling seizures. Dr. Giangennaro Coppola, Dr. Andrea Viggiano and Dr. Raffaele Pilla were the investigators and published a paper from their findings.
Q & A with Dr. Raffaele Pilla
Q & A with Dr. Dominic D’Agostino
The University of Salerno has also conducted animal studies with a ketone salt compound. The research project was funded by the Glut1 Deficiency Foundation and involved the Wistar rat epilepsy model and will measure safety and efficacy in controlling seizures. Dr. Giangennaro Coppola, Dr. Andrea Viggiano and Dr. Raffaele Pilla were the investigators and published a paper from their findings.
Q & A with Dr. Raffaele Pilla
Metafora Biosystems is a company based in France that is developing a blood test to diagnose Glut1 Deficiency through detecting cell energy abnormalities. We were happy to welcome Vincent Petit and Luc d’Auriol to our conference in Nashville and also heard an update from Vincent at our Washington, DC gathering. We appreciate the opportunity to share more information about this exciting new test through a Question and Answer session.
Q & A with METAFORA
Q & A with METAFORA
