2025 Research Highlights

Hello and welcome to Science with Sandra!

Happy New Year to everyone. I hope you and your families had a wonderful holiday season!

As we begin a new year, I would like to share in this edition all the accomplishments we achieved in 2025, as well as what we are looking forward to in 2026.

One of our biggest accomplishments on the research front this past year was the establishment of two clinical trials in our community. One trial is studying the use of diazoxide as a treatment for GLUT1 Deficiency, and the second is investigating the use of fucose as a potential treatment for GLUT1 Deficiency.

Thanks to the generous donations from our community members, along with matching funds from the Million Dollar Bike Ride through the Orphan Disease Center at the University of Pennsylvania, we were able to fund the diazoxide study. This study is currently underway under the direction of Dr. Paul Thornton at Cook Children’s Hospital in Fort Worth, Texas. You can read a summary of the meeting with Dr. Thornton, where he shared more details about the trial, by following this link.

In addition, thanks to the generous donations made through last year’s Love Some1 fundraising campaign, we were able to fund the fucose clinical trial, which will begin this spring. This trial is under the direction of Dr. Rodrigo Starosta and will take place at Oregon Health & Science University (OHSU). You can learn more about this study by following this link.

Another major accomplishment was hosting our first in-person Research Workshop this past July in New York City. The meeting was very successful, with participation from researchers, clinicians, and industry partners from around the world and at different career stages. Our goal was to bring together diverse stakeholders to foster open discussions and develop a working agenda by forming interest- and expertise-based groups. These efforts will help our organization better support clinicians and researchers, and ultimately patients and their families, by moving research forward more efficiently toward better treatments and, eventually, a cure for GLUT1 Deficiency. You can learn more about this milestone by following this link.

The workshop has already been fruitful, leading to new collaborations and the establishment of clinical and scientific working groups. We recently held our first virtual meetings for these groups, during which we discussed focus areas and goals. We are grateful to all the researchers and clinicians participating and actively working to help us achieve these goals. Our next meeting will take place on January 20th, when we will continue working on key focus areas and set the agenda for the new year.

The network of researchers and clinicians working together to better understand GLUT1 Deficiency continues to grow, enabling new collaborations. One important outcome of this expanding professional network is making GLUT1 Deficiency animal models publicly available. Thanks to Dr. Tamio Furuse and his colleagues at the RIKEN BioResource Research Center in Japan, the number of research tools available to our community is increasing. This will allow more researchers to study the disease and help make the development of better treatments for everyone in our community a reality. You can learn more about Dr. Furuse’s GLUT1 Deficiency mouse model by following this link.

To further connect, strengthen, and support the research community, we recently launched our Collaborative Research Network (CRN). The CRN aims to bring together scientists and clinicians at all career stages who share a commitment to collaboration and a desire to help patients and families affected by GLUT1 Deficiency. More information about the CRN and its members can be found by following this link.

Another major accomplishment this year was the creation of the Collaborative Care Center (CCC) program. The CCC was established to recognize excellence in medical care for the GLUT1 Deficiency community. We opened applications last October and were thrilled by the number of outstanding applicants from around the world. The CCC will help support patients and families by providing information about participating centers and connecting them with healthcare providers experienced in treating GLUT1 Deficiency, managing the ketogenic diet, and delivering the multidisciplinary care our loved ones need and deserve. In addition, the CCC will foster collaboration opportunities across both clinical and research fronts, often serving as a platform for translational medicine, bridging research laboratories and clinical trials to benefit patients directly.

Looking ahead to the new year, we are excited to continue expanding our research network and collaborating with CRN and CCC members to provide better care and better treatments for our loved ones.

We are also thrilled about our upcoming GLUT1 Deficiency Summit, taking place this summer in Asheville, North Carolina. We have planned an exciting agenda with many confirmed speakers. You can find more information about the Summit by following this link.

We continue to expand collaborations with partner organizations, including COMBINEDBrain, and we have several projects on the horizon that will require patient participation. We will share more details about these initiatives in future blog posts, stay tuned.

Finally, we remain committed to supporting our loved ones and their families through our various programs, Zoom gatherings, newsletters, and blog posts. We hope this new year brings meaningful progress to our community on all fronts, leading to better care and better treatments for all our loved ones.

Please do not hesitate to contact me at [email protected] if you have any questions, and thank you for visiting our blog!