Patient Powered Research
The Glut1 Deficiency Foundation believes in the power of patients.
Patients and families have unique and unprecedented expertise in their own diseases. By engaging in research, patients can provide invaluable insights into disease mechanisms, improve patient care, and drive the direction and focus of research to ensure it is addressing things that matter most to them.
The Glut1 Deficiency Foundation is working hard to build collaborations all across this rare disease community, provide tools, resources, and insights to make research easier, and ensure patients are centered in all of it - but we need your help.
Patients have incredible power to accelerate progress when they become engaged in research. Providing bio samples, patient data, insights on patient experiences, needs, and priorities, participating in research studies, and helping fund basic science that will translate to treatments and better care are all ways that empower patients and families to turn their hope into action.
Learn more below about how you can help.
PATIENTS, FAMILIES & CAREGIVERS
Help advance research.
Participate in Natural History Studies
Share your experiences as a patient or caregiver so all of us can better understand all the aspects of this rare disease and find better ways to diagnose and treat it.
Contribute Biosamples for Research
Learn more about our partnerships to establish biobank repositories so researchers have easy access to diverse patient samples to study so they can better understand disease mechanisms.
Contribute to the Brain Bank
Support research about rare neurological diseases like Glut1 Deficiency by enrolling in the brain bank donation program at UT Southwestern under the direction of Dr. Juan Pascual.
Support the Million Dollar Bike Ride
Join Team Glut1 in the Million Dollar Bike Ride to help raise money for a Glut1 Deficiency research grant with matching funds from the Penn Medicine Orphan Disease Center.
Build Your Research Literacy
Attend a Research Ready Series event to learn the fundamentals of scientific research and how to help make sure it is focused on what matters most to patients and families.
Natural history studies
A natural history study is a type of research study that collects detailed information from patients to characterize the signs and symptoms of a disease and how the disease evolves over time. They are an important way to learn more about patients and help improve care and develop better treatments.
The Glut1 Deficiency Foundation has made two types of Natural History Studies available to patients and you can learn more about them below. Both of these natural history studies collect different types of information and complement each other to provide a more comprehensive and robust understanding of this disease.
Glut1 Deficiency Natural History Study with Matrix
Focus: patient reported data
What's involved? series of surveys
Who can participate? global
Languages: English, Spanish, French, Italian, German, Portuguese, Korean
Who has access? patients and caregivers can grant access to the anonymous data to researchers and industry looking to study Glut1 Deficiency
Glut1 Deficiency Natural History Study with Ciitizen
Focus: health records
What's involved? one time form to complete
Who can participate? easiest for those in USA
Who has access? patients and caregivers can grant access to the anonymous data from the health records to researchers and industry looking to study Glut1 Deficiency
Biorepositories and biobanks store biological specimens such as blood, saliva, plasma, urine, tissue, or spinal fluid from patients and make them available for use in research to help improve understanding of the underlying disease mechanisms and accelerate the development of new therapies.
The Glut1 Deficiency Foundation participates in several biorepositories to help make patients biosamples more easily available to researchers. This is another powerful way to help drive progress and provide the resources and tools scientists need to understand our disease better and develop and test treatments.
Focus: peripheral blood mononuclear cells (PBMCs); induced pluripotent stem cells (iPSCs); urine
What's involved? blood draw and/or urine collection
Who can participate? anyone in the USA
Languages: English and Spanish
Who has access? researchers and industry looking to study Glut1 Deficiency can get de-identified samples
Focus: Lymphoblastoid cell lines (LCL), fibroblasts, and induced pluripotent stem cells (iPSC)
What's involved? blood draw or skin biopsy
Who can participate? anyone in the USA
Who has access? researchers looking to study Glut1 Deficiency can get de-identified samples
Interested in participating in research? COMBINEDBrain is traveling to a conference near you!
COMBINEDBrain has created a Biorepository Roadshow to allow participating organizations to collaborate during our individual family conferences to provide opportunities for any of the COMBINEDBrain rare diseases represented to invite families to come do sample donations.
Who: Any participant diagnosed with a neurodevelopment disorder (we also need some sibling controls).
What: COMBINEDBrain will be collecting blood samples (processed for plasma and a finger stick). You will need to have confirmation of diagnosis available (genetic report or lumbar puncture results).
Cost: Plasma samples and finger sticks are free!
When: Any participant may attend ANY of the following COMBINEDBrain conferences
- Yellow Brick Road Project, July 30th-August 2nd (Jacksonville, FL)
- KAND, August 3rd-6th 2023 (Queens, NY)
- Glut1 Deficiency Research Ready, August 26th (Indianapolis, IN)
- Potential: Global Genes, Sept 19th-20th 2023 (San Diego, CA)
- IRF2BPL Foundation, Sept 22nd-23rd 2023 (Cincinnati, OH)
- Prader-Willi Syndrome/USP7 Foundation, October 5-7 (Denver,CO)
- TBRS Foundation, Oct 12th-15th 2023 (San Antonio, TX)
- COMBINEDBrain Meeting, Oct 15th-16th 2023 (Washington DC)
- ADNP Syndrome, Oct 30th-Nov 1st 2023 (Los Angeles, CA)
- Potential: FAST Angelman, November 2023 (Orlando, FL)
- SYNGAP1 Research Fund, Dec 1st-3rd 2023 (Orlando, FL)
- SLC6A1 Connect, Dec 1st-3rd 2023 (Orlando, FL)