Red Blood Cell Transfusion for Glut1 Deficiency Syndrome
What You Need to Know Before You Apply
What is the purpose of this trial?
This trial explores a new treatment option for individuals with Glut1 Deficiency Syndrome, a condition that impairs glucose transport into the brain, causing seizures and developmental issues. The treatment involves a Red Blood Cell Exchange Transfusion, replacing a portion of a patient's red blood cells with donor red blood cells. The researchers aim to determine if this can improve neurological symptoms and overall brain function. Individuals with a confirmed Glut1 diagnosis who are not currently on a strict diet to control seizures might be suitable candidates for this trial. As an unphased trial, this study provides a unique opportunity to contribute to groundbreaking research that could lead to new treatment options.
Do I have to stop taking my current medications for the trial?
The trial does not specify if you need to stop taking your current medications. However, you cannot be on the ketogenic diet or taking triheptanoin (C7) oil.
What prior data suggests that this red blood cell exchange transfusion is safe?
Research has shown that red blood cell exchange transfusion (RBCx) is generally safe. It is often used for people with sickle cell anemia to prevent strokes and other blood vessel issues, indicating it is well-tolerated in these cases.
In this study, experts will supervise the procedures. The treatment involves replacing most of a patient's red blood cells with healthy ones from a donor, similar to the process for sickle cell anemia patients.
While using RBCx for GLUT1 Deficiency Syndrome is new, the basic procedure has been safely used before. Although direct data for this specific condition is not yet available, the proven safety of RBCx in other conditions is encouraging.12345Why are researchers excited about this trial?
Unlike standard treatments for Glut1 Deficiency Syndrome, which typically include dietary modifications like the ketogenic diet or medications to manage symptoms, the red blood cell transfusion approach targets the condition at a cellular level. This treatment is unique because it replaces a significant portion (up to 70%) of the patient's red blood cells with those from healthy donors, matched for specific blood group antigens. This innovative method aims to directly address the underlying metabolic issue by enhancing glucose transport across the blood-brain barrier, which could lead to improved energy supply to the brain. Researchers are excited because this could offer a more direct and potentially more effective way to manage symptoms and improve the quality of life for those with Glut1 Deficiency Syndrome.
What evidence suggests that red blood cell exchange transfusion might be an effective treatment for Glut1 Deficiency Syndrome?
Research suggests that red blood cell exchange transfusion (RBCx), the treatment participants in this trial will receive, might help with Glut1 Deficiency Syndrome. This condition affects how sugar enters the brain. Studies have shown that RBCx can replace unhealthy red blood cells with healthy ones. This process might deliver more sugar to the brain, potentially improving symptoms. Patients who have undergone similar treatments have demonstrated better brain function. Therefore, researchers consider RBCx a promising approach to managing this condition.12346
Who Is on the Research Team?
Juan Pascual, MD, PhD
Principal Investigator
UT Southwestern Medical Center
Are You a Good Fit for This Trial?
This trial is for individuals aged 16-64 with genetically confirmed GLUT1 Deficiency Syndrome who are not on dietary therapies like the ketogenic diet due to ineffectiveness or personal choice. They must be able to return for follow-ups and have good veins for IV placement. Pregnant or breastfeeding individuals, those planning pregnancy without birth control, and patients with serious chronic conditions are excluded.Inclusion Criteria
Exclusion Criteria
Timeline for a Trial Participant
Screening
Participants are screened for eligibility to participate in the trial
Treatment
Participants undergo isovolemic hemodilution-red cell exchange (IHD-RBCx) with up to 10 units of matched donor red cells
Immediate Post-Treatment Assessment
Participants are assessed immediately after transfusion for changes in neuropsychological and biochemical measures
Follow-up
Participants are monitored for safety and effectiveness after treatment, including neurological exams and EEG
What Are the Treatments Tested in This Trial?
Interventions
- Red Blood Cell Exchange Transfusion
Find a Clinic Near You
Who Is Running the Clinical Trial?
Juan Pascual
Lead Sponsor