Summer Research Roundtable Summary

For this month’s issue, I would like to give you a brief summary of our Research Roundtable that took place on July 23rd. The meeting had a record high participation with 67 attendees, including researchers, clinicians and parents/caregivers. Our guest speakers were Dr. Jorg Klepper, and Dr. Juan Pascual. 

As many of you know, Dr. Jorg Klepper is the Medical Director of Aschaffenburg Children’s Hospital in Aschaffenburg, Germany. He also serves as a consultant for pediatric neurology at Essen University and he is a lecturer on pediatrics at Essen and Wurzburg Universities. Dr. Klepper shared a summary of the clinical sessions of the recent GLUT1 summit in Dallas. 

He started his presentation by sharing an overview of the symptoms in GLUT1 Deficiency, such as epilepsy, movement disorders, and cognitive and developmental delay. He explained how patients with GLUT1 Deficiency can experience different types of seizures, including absence, which are the most common type of seizures experienced by patients. Movement disorders can be constant or paroxysmal. Some of the types movement disorders experienced by patients with GLUT1 Deficiency include spasticity, ataxia, dystonia and chorea. Symptoms change over time with epilepsy being more common during childhood and movement disorders more commonly experienced by adolescents and adult patients.

There have been advances toward having a better understanding of symptoms such as speech and communications issues in GLUT1 Deficiency. The group led by Dr. Ruth Braden and Dr. Adam Vogel in Australia is currently conducting a speech and communication study in the GLUT1 Deficiency community, which is available in multiple languages and for patients all over the world. This project will lead to having a guideline for speech therapy tailored to patients with GLUT1 Deficiency; in addition, it would allow to use speech and communication outcomes as a way to measure efficacy for new treatments.

Finally, Dr. Klepper shared some of the challenges for the GLUT1 Deficiency community such as the complexity of the disease. GLUT1 Deficiency is much more than a brain energy crisis, there are still many unknowns about this disease, including what happens to GLUT1 Deficiency patients during pregnancy or how symptoms change with age. Additionally, there’s not a clear picture of how symptoms change during adulthood. There is also a need for novel diagnostic tests and newborn screening tests to diagnose and treat early. Furthermore, there is a need to understand why the ketogenic diet fails in some cases and to develop better treatments that will help all patients.

Our next speaker was Dr. Juan Pascual. Dr. Pascual is the Chief of the Division of Child Neurology in the Department of Pediatrics at New York Presbyterian Komansky Children’s Hospital and Weill Cornell Medicine. He is also a Professor of Pediatrics, Neurology and Neuroscience in the Feil Family Brain and Mind Research Institute and a faculty member in the Sage School of Philosophy in the College of arts and Sciences on Cornell’s Ithaca campus. 

Dr. Pascual shared a summary of the scientific sessions of the GLUT1 summit. He highlighted the importance of patient participation in clinical research. Patient participation is key for research to go farther and faster. Patient participation helps to bring their perspectives, needs and wants to the table and guide research in ways that are meaningful to patients and that will target the outcomes that matter the most to them.

He pointed out that there is a good number of animal models to study GLUT1 Deficiency, including mice, and pigs. These models allow researchers explore mechanisms involved in this disease, as well as to test possible treatments before going into clinical trials. Dr. Pascual also shared the research topics that he is excited to see being developed. Some of those include the study of single molecules in brain, such decanoic acid (C10) or the studies being done toward having a better understanding of the role GLUT1 plays in cell development. In addition, he talked about the importance of studies on glycobiology or the study of the structure, biosynthesis, biology, of sugars that are distributed in nature and how they are involved in other molecules’ structure and function. These studies are important due to the fact that studies in brain of a mouse model of GLUT1 Deficiency have shown these mice have decreased glycosylation.

Finally, Dr. Pascual shared his vision for developing a pathway for rapid clinical trials which will allow for testing and collecting high quality data in a small number of people; this could help drive treatment development faster.

I would like to thank Dr. Klepper and Dr. Pascual for their participation at our Research Roundtable and for all the work they do for our community!

Please, don’t hesitate to contact me if you have any questions at [email protected], and thank you for reading this post!