Glut1 Deficiency Foundation
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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.
​2019 and 2020 research grant awards
2017 research grant awards
2016 research grant awards
previous year 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 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.
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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.
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. ​​

Clinical Trials

Clinicaltriasl.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.

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 Irving Medical Center Colleen Giblin Lab
Overview of Glut1 Deficiency projects at Columbia University
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

Ketone Supplement Animal Studies
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
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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

New Blood Test for Glut1 Deficiency
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

Recent Publications

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Glut1 Deficiency Foundation
PO Box 737 
Owingsville, KY 40360    
​info@G1DFoundation.org
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Copyright © 2021 Glut1 Deficiency Foundation
  • Home
  • About Glut1 Deficiency
    • What is Glut1 Deficiency?
    • Key Terms in Glut1 Deficiency
    • About the Ketogenic Diet
    • Newly Diagnosed
    • Research >
      • Research News >
        • Research Grant Program >
          • Research Grant Award Recipients
      • Recent Publications
      • Patient Registry
    • Resources >
      • Cognition and Learning
      • Videos
      • Resource List
      • Family Recommended Specialists
      • Patient Stories >
        • Stories >
          • Emily
          • Bobby
          • Lilly
          • Allison
          • Katie
          • Tessa
          • Justin
          • Whitney
          • Ryan
          • Erik
          • Pattygrace
          • Chris
          • Sam
          • Collette
          • Phil
          • Joshua
          • DeAndre
          • Matt
          • Jayden
          • Brittany
          • Macie
          • Braden
          • Dalton
          • Jordan
          • Joelle
          • Sabrina
          • Thomas
          • Haley
          • Reed
          • Ben
          • Parys
          • Ronnie-Louise
          • Colin
          • Nathan
          • Lee
          • Dominic
          • Raina
          • Dylan
          • Brayden
          • Elli
          • Jacob
          • Rian
          • Hailey
          • Olivia
          • Addie
          • Drake
        • Share Your Story
      • Materiales en Español
    • Brochures
  • About G1DF
    • About the Foundation
    • Leadership Team
    • Medical Advisory Board
    • Scientific Advisory Board
    • Educational Events and Exhibits
    • Ways to Help
  • News
    • COVID-19
    • CZI Rare As One
    • Foundation Newsletters >
      • Fall 2020
      • Summer 2020
      • Spring 2020
      • Winter 2020
      • Fall 2019
      • Summer 2019
      • Spring 2019
      • Winter 2019
      • Fall 2018
      • Summer 2018
      • Spring 2018
      • Winter 2018
      • Fall 2017
      • Summer 2017
      • Spring 2017
      • Winter 2017
  • Conferences and Events
    • Conferences
    • 2021 Conference - San Diego
    • Glut1 Gatherings on Zoom
  • Get Involved
    • Family and Professional Networks
    • Volunteer Network
    • UTSW Surveys
    • Sign Up for Our Mailing List
    • Ways to Give
    • Shop to Support
    • Donate
    • Love Some1 with Glut1 >
      • 2021 Love Some1 video
      • 2021 Love Some1 with Glut1
    • Million Dollar Bike Ride
    • Fundraising >
      • Fundraising Help
      • Host a Fundraiser
  • Donate