Glut1 Deficiency Summit Preview

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We are so excited preparing for the upcoming Summit at the end of this month, and we hope we can see many of you in person in Dallas. We are ready to listen to all the wonderful guest speakers, and all the information they will share with us, to learn more about the disease, the treatments on the horizon, as well as the experiences of patients and families.

The first two days of the Summit will be filled with scientific talks. On day 1 we will hear from Dr. Pascual and some of his collaborators from his recently granted NIH Team Science grant. We will learn more about different aspects of the project, ranging from the mouse level, looking at brain activity in GLUT1 Deficiency, going to the human level, in studies such as the red blood cell exchange. We will also learn about different techniques and disease models that will be used in this collaborative effort. Additionally, at the end of the day, we will have a poster session featuring work from researchers, clinicians, and patient experiences. This will be a busy day filled with lots of wonderful information and will set the stage for the rest of the summit.

Day 2 will start early. The first session of the day will be around electrophysiology or the biomedical field dealing with the study of electric activity in the body. We will have talks around brain circuitry and epilepsy, and seizures in GLUT1 Deficiency. Next, we will learn more about the role of GLUT1 in neural progenitor cells and brain dysfunction, as well as methods to test the effects of variants or mutations on the SLC2A1 gene. After lunch, we will have a session around glucose metabolism. The last session of the day will be around therapy development, including gene therapy, small molecules and other compounds for the treatment of GLUT1 Deficiency. Finally, the day will end with a welcome social for all attendees.

On Day 3 we will have the clinical sessions. The first session of the day will be around the disease and the symptoms, including neurodevelopment, seizures, movement disorders and speech/communication. Then, we will learn more about the patient experiences, the ketogenic diet and other treatments. Next, we will have the breakout sessions featuring the ketogenic diets, adulthood and treatments in the horizon. We will close the sessions with a patient panel, which will for sure be one of the highlights of the summit! Finally we will end the day with an evening social.

The last day of the summit will be the family day. The day will start with summaries of the scientific and clinical sessions. Next, we will have a parent panel where participants can ask many different questions. Then, we will have a session around support systems for patients and family members. After lunch, we will dive into the breakout sessions. Session A will have three options, one around adult experiences, including fostering independence and transitions; one about school including accommodations and programs. The last session will be the research ready series which is a two hour training on Research fundamentals training. It includes stipends for the first 20-30 registered participants who complete the training and take pre and post-tests. Here you can find more information about the series and a link to register.

Following a short break, we will have Session B with two breakout options. One is around fostering independence cooking keto, including kitchen tips and tools. The second option is about social support, including fostering social skills and addressing differences, among others.

The Summit will end with an evening social, where people can chat and have a good time, with lots of different activities and options.

I would like to highlight, that in addition to the wonderful talks and activities available at the conference, participants will have the opportunity to participate in a couple of research studies. Dr. Pascual is conducting an in-depth analysis on movement and gait disorders and a metabolic study in GLUT1 Deficiency patients. In addition, researchers at Children’s National Medical Center, will be conducting a functional near infrared spectroscopy (fNIRS) study. Here you can learn more about these studies and information on how to contact researchers in case you are interested in participating.