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Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome

NCT04137692 · Status: SUSPENDED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 12

Last updated 2025-12-11

No results posted yet for this study

Summary

Pathogenic mutations of the brain glucose transporter type I lead to glucose transporter deficiency syndrome (G1D), which is most often associated with medication-refractory epilepsy and movement dysfunction. At present, G1D is only alleviated by interventions such as the ketogenic diet, which can be poorly tolerated and afford only an incomplete restoration of neural function. A better understanding of G1D can uncover new fundamental aspects of brain function while facilitating the development of new therapies aimed to restore brain metabolism and excitability. We will conduct a mechanistic trial that will utilize a mechanism-testing framework broadly applicable to metabolic interventions. The trial will investigate red blood cell exchange (i.e., the replacement of human G1D circulating red cells, which are deficient in GLUT1) with healthy donor cells as a novel means to augment blood-to-brain glucose transport. The hypothesis is that electroencephalography post treatment will display an increase in beta brain activity. Additional measures of brain activity will also be secondarily tested.

Conditions

  • Glucose Transporter Type 1 Deficiency Syndrome
  • GLUT1DS1

Interventions

OTHER

Red Blood Cell Transfusion

The procedure will be performed as an outpatient according to protocols established for sickle cell anemia patients. Two IVs are placed for the purposes of transfusion, one for draw and one for return. Patients will undergo isovolemic hemodilution-red cell exchange (IHD- RBCx) with up to 10 units of red cell antigens (Rh group, Kell, Duffy, Kidd blood group antigens) matched normal donor red cells to replace a target of 70% of the patient's red cells with donor red cells.Total time of procedure: approximately 150 minutes.

Sponsors & Collaborators

  • Weill Medical College of Cornell University

    lead OTHER

  • National Institute of Neurological Disorders and Stroke (NINDS)

    collaborator NIH

Principal Investigators

  • Juan Pascual, MD, PhD · Weill Medical College of Cornell University

Study Design

Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
16 Years
Max Age
80 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2027-09-30
Primary Completion
2030-08-31
Completion
2031-08-31

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04137692 on ClinicalTrials.gov