Research Tools and Topics
A list of resources to help make tools and information more broadly accessible and help save time and effort for scientists devoted to helping our patient community.
- patient derived available at both the COMBINEDBrain and Coriell biorepositories (see Biorepository information above)
- isogenic cell lines (SLC2A1+/-) available from Abraham Al-Ahmad, PhD @ Texas Tech
- Jackson Labs
- Juan Pascual, MD, PhD @ UT Southwestern
- Umrao Monani, PhD @ Columbia University
Information shared from Abraham Al-Ahmad, PhD and Quin Ma, PhD
- 14C-glucose (radioactive) preferred
- colorimetric/fluorimetric based assays seem to have limitations in terms of accuracy, sensitivity and/or reproducibility
- SPM498 clone (Thermofisher) works well on IF and flow, but not Western Blot
- SA0377 (MA5-31960, Thermofisher) works well for Western Blot and flow, but on IF it was not as good as SPM498
- polyclonal rabbit recognizing the N-terminus - still a work in progress for optimization
- MilliporeSigma (catalog number: 07-1401) works well using a general Western Blot protocol and a concentration of 1:1000
The Glut1 Deficiency Foundation has a quickly growing biorepository as part of a collaborative effort through our membership in the COMBINEDBrain consortium. There are samples from over 40 Glut1 Deficiency patients plus healthy controls as well as from patients across more than 30 neurodevelopment disorders in COMBINEDBrain. De-identified samples will be linked to any available natural history study data through a unique clinical research identifier.
current sample types available:
- patient-derived iPSC's
If you are a researcher interested in obtaining samples or a patient/family interested in donating samples, please contact G1DF Biorepository Director Katie Staudt at [email protected] for further information.
Coriell Institute for Medical Research
The Glut1 Deficiency Foundation is helping facilitate the establishment of a biobank repository at Coriell Institute for Medical Research. Cell lines and other biological samples are available to researchers around the world who are working to advance the diagnosis and treatment of Glut1 Deficiency.
current sample types available:
- LCL (lymphoblastoid cell lines)
- patient-derived iPSC's
If you are a patient and would like to find out more about contributing samples to this important initiative or are a researcher looking for a source, please contact Eunice Horton or Jose Santana at Coriell. The catalog of resources can be found at the link below.
Summary Notes from the Hemlock family's 2022 conference presentation on their tissue donation experience.
Dr. Juan Pascual has established a Brain Bank to collect information, brains, and tissue samples from people with a rare or undiagnosed neurological disease or from a family member of someone who has a rare or undiagnosed neurological disease. The information that we learn by doing this study may help us develop knowledge about rare or undiagnosed brain disorders.
You may be eligible for this study if you are:
- Male or female of any age undergoing evaluation or treatment for a rare or undiagnosed neurological disease.
- A family member of these patients.
- Other healthy volunteers may also be invited to participate.
- Must be able to speak and read English or Spanish.
Questions? Contact the research team at [email protected]
Dr. Ivy Samuels, a researcher who studies Glut1 in the retina, is helping coordinate a study to look more closely at any retina impacts for Glut1 Deficiency patients. In collaboration with Eversight, an eye bank is being set up to learn more.
Please check back for more details as this program is established.
Natural History Study
We have recently launched a natural history study on Matrix to collect data about patient experiences so we can better understand the full picture of Glut1 Deficiency and how that changes over time. The study features patient-reported outcomes currently with the plan to add clinical data in the near future. De-identified data may also be linked to any biorepository samples available.
Please visit the link below to learn more about the Glut1 Deficiency Natural History Study or contact G1DF Science Director Sandra Ojeda with questions.
Dr. Juan Pascual maintains a patient registry at UT Southwestern Medical Center. Please use the link below to learn more, to register, or to update your information.
Clinical Trial Information
Find a listing of recent, current, and future clinical trial studies for Glucose Transporter Type1 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.
Metafora Biosystems is a company based in France that is developing a blood test, METAGlut1, to diagnose Glut1 Deficiency through detecting cell energy abnormalities. The test is currently available in France, Belgium, and Luxembourg with more research and development underway to make it more widely available.
Lumbar puncture and genetic testing remain the standard tools for diagnosis. Please find more information at the link below.
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.
Chan Zuckerberg Initiative Rare As One Network
Rare Epilepsy Network (REN)
RESOLUTE is a public-private partnership with 13 partners from academia and industry with an overarching goal: To trigger an escalation in the appreciation and intensity of research on solute carriers (SLCs) worldwide and to establish SLCs as a tractable target class for medical research and development.
Life Sciences Protocols
Bio-Protocol believes that traditional methods sections of a research article are often brief and incomplete, making it difficult to replicate experiments without extensive trouble-shooting.
Launched in 2011 by a group of Stanford postdoctoral researchers, Bio-protocol aims to solve this issue with the Bio-protocol journal, an online peer-reviewed protocol journal curating and hosting high quality, free access protocols across the life sciences. Sharing detailed methods and fostering direct communication among researchers will improve reproducibility and accelerate discovery.