Asheville Summit Highlights
Hello and welcome to Science with Sandra!
In this edition, I’d like to share some of the highlights from the GLUT1 Deficiency Foundation’s 2026 Summit in Asheville, North Carolina. Over two and a half days, researchers, clinicians, individuals living with GLUT1 Deficiency, families, and industry partners came together to share new discoveries, discuss emerging therapies, and strengthen the collaborations that continue to make meaningful progress.
One of the things I enjoy most about our Summit is seeing how much our community has grown. Every meeting welcomes newly diagnosed families beginning their GLUT1 journey alongside families who have been with us for many years. This year reminded us that there is always something new to learn, regardless of where you are on that journey.
Building a Strong Foundation
The Summit opened with several sessions designed to help families build a deeper understanding of GLUT1 Deficiency.
Dr. Rodrigo Starosta introduced the fundamentals of genetics, explaining how genes serve as our body’s instruction manual and how changes in the SLC2A1 gene lead to GLUT1 Deficiency. Families also learned about different types of genetic testing, how to interpret genetic variants, and had the opportunity to review their own genetic test results with Dr. Starosta and genetic counselor Leah Wessenberg.
Our GLUT1 101 session brought together experts from several disciplines to provide an overview of the disorder, current treatment approaches, Foundation research initiatives, and the many programs available to support families. We were delighted to see not only newly diagnosed families attend these sessions, but many long-time community members as well came to learn alongside and show support.
The afternoon concluded with Therapy 101, where researchers discussed why additional treatment options are urgently needed and explained some of the differences between different treatments. Although the ketogenic diet remains the standard of care, it does not completely control symptoms for everyone. Researchers shared an overview of multiple therapeutic approaches that are being explored for GLUT1 Deficiency, including antisense oligonucleotides (ASOs), viral vector-based gene therapy, small molecules, nutritional therapies, and drug repurposing strategies.
GLUT1 Deficiency Is More Than Seizures
One of the strongest themes throughout the Summit was that GLUT1 Deficiency affects far more than seizures.
Professor Dr. Joerg Klepper reviewed our current understanding of the disease, emphasizing that there is no simple relationship between a person’s genetic variant and the severity of their symptoms. He highlighted the ongoing need for newborn screening, additional treatment options, and continued research into disease mechanisms using animal models.
I also had the opportunity to share updates from our complementary natural history studies, which combine patient-reported experiences with electronic health record data. Together, these studies continue to reveal the remarkable diversity of GLUT1 Deficiency.
While seizures remain an important feature of the disorder, many participants reported movement disorders, muscle weakness, developmental delays, cognitive challenges, behavioral concerns such as anxiety and attention difficulties, and visual symptoms that may be more common than previously recognized. These real-world data are helping researchers better understand disease progression, identify meaningful outcome measures, and design future clinical trials that reflect what matters most to patients and families.
Understanding Symptoms That Matter Most
Several sessions focused on the symptoms families consistently identify as having the greatest impact on daily life.
Cognition
Dr. Becky Olson and Dr. Valentina de Giorgis discussed how cognitive challenges remain one of the most significant aspects of GLUT1 Deficiency. Executive functioning and language appear particularly vulnerable, while early diagnosis and treatment offer the greatest opportunity to preserve neurological development. The speakers also emphasized the importance of educational accommodations and individualized support to help children reach their full potential.
Speech and Language
One of my favorite sessions combined science with lived experience as Chris shared his personal journey navigating speech challenges associated with GLUT1 Deficiency.
Dr. Vikram Jakkamsetti and Dr. Ruth Braden also presented exciting new work investigating why speech difficulties occur. Emerging evidence suggests that cerebellar dysfunction may contribute to speech production problems, while a recent study has identified common speech characteristics including dysarthria, altered rhythm, and imprecise articulation. As our understanding grows, so does the opportunity to develop better therapies and interventions.
Movement Disorders
Movement disorders remain one of the most common – and often most disabling – features of GLUT1 Deficiency. Personal stories from Reece and Bekah beautifully illustrated both the daily challenges and the resilience of our community.
Dr. Toni Pearson and Dr. Valentina De Giorgis reviewed the wide range of movement symptoms patients experience, including ataxia, dystonia, chorea, spasticity, fine motor difficulties, and exercise-induced dyskinesias. They also discussed how symptoms may fluctuate with fasting, illness, stress, or physical activity, reinforcing how profoundly movement disorders can affect school, work, independence, and quality of life.
Seizures
Dr. Juan Pascual reviewed exciting advances in our understanding of seizure mechanisms in GLUT1 Deficiency, including research identifying the brain circuits involved in seizure generation. While these discoveries continue to advance the field, many individuals still experience seizures despite dietary therapy, highlighting the ongoing need for additional treatment options.
Improving Care Today
Although much attention focused on future therapies, several presentations highlighted ways we can improve care using the tools already available.
Dr. Marisa Armeno and Dr. Erick Kossoff shared encouraging data showing that many individuals achieve excellent seizure control with more individualized ketogenic diet approaches, including lower ketogenic ratios, modified ketogenic diets, and medium-chain triglyceride (MCT) supplementation. These more flexible strategies may improve quality of life while maintaining clinical benefit for some patients.
Researchers also discussed how puberty can influence GLUT1 symptoms. Many families recognize worsening movement disorders, hormonal influences on seizure control, mood changes, migraines, and changes in ketone production during adolescence. Better understanding these changes allows clinicians and families to anticipate challenges and adjust treatment accordingly.
Sessions focused on adulthood from Dr. Mackenzie Cervenka and Kelly Faltersack highlighted some of the special considerations for the possible evolution of symptoms and treatment strategies. Sessions on social skills, and long-term planning reminded us that GLUT1 Deficiency has far-reaching impacts beyond the medical aspects and that it is a lifelong condition that requires careful consideration and planning. Topics ranged from transitioning to adult care and employment to financial planning, guardianship, Medicaid, and strategies for building independence and maintaining meaningful community connections.
Research Is Moving Faster Than Ever
Perhaps the most exciting message from this year’s Summit was the incredible momentum in GLUT1 research. Researchers presented advances across a broad range of therapeutic strategies. These included small molecules designed to improve brain energy production, antisense oligonucleotides that increase GLUT1 expression, viral vector-based gene therapies, therapeutic dietary approaches such as decanoic acid, and studies exploring the role of glycosylation and L-fucose biology in GLUT1 Deficiency.
Several clinical studies also highlighted how far our community has come. Investigators shared updates on ongoing research into fucose supplementation and diazoxide, while emphasizing both the promise and the challenges of developing new treatments. We also heard about exciting work investigating sleep disturbances in GLUT1 Deficiency and how improving our understanding of sleep may ultimately contribute to better cognitive outcomes.
One message became increasingly clear throughout these presentations: researchers are no longer studying GLUT1 Deficiency from a single perspective. Instead, laboratories around the world are approaching the disease from many different angles, creating multiple opportunities for meaningful therapeutic advances.
The Biggest Takeaway
If there was one theme that connected every presentation throughout the Summit, it was collaboration.
Researchers are listening more closely than ever to patients and families. Clinicians are working together across institutions. Industry partners are investing in therapies with the potential to transform care. Most importantly, the priorities identified by individuals living with GLUT1 Deficiency and their families are helping shape the research questions being asked.
While there is still much work ahead, the progress shared in Asheville gives me genuine optimism. We are learning more about GLUT1 Deficiency every year, building stronger collaborations, and developing therapies that have the potential to improve the lives of everyone in our community.
Thank you to every presenter, researcher, clinician, industry partner, family member, caregiver, and individual living with GLUT1 Deficiency who shared your knowledge and experiences during this year’s Summit. Your willingness to collaborate and learn from one another is what continues to move our community forward.
Please stay tuned as resources are put together and shared from the Summit.
Thank you for visiting Science with Sandra. As always, if you have questions or topics you would like me to explore in a future edition, please don’t hesitate to reach out to me at [email protected].
