Status:
SUSPENDED
Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome
Lead Sponsor:
Weill Medical College of Cornell University
Collaborating Sponsors:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Glucose Transporter Type 1 Deficiency Syndrome
GLUT1DS1
Eligibility:
All Genders
16-80 years
Phase:
NA
Brief 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 dysf...
Detailed Description
Glucose Transporter 1 (GLUT1) is a protein that helps move glucose (sugar) into cells. Most tissues in the body have only small amounts of this protein. Red blood cells, however, have very large amoun...
Eligibility Criteria
Inclusion
- Male or Female
- Age 16 years to 80 years old.
- Diagnosed with genetically confirmed glucose transporter type 1 disorder
- Patients not currently receiving ketogenic dietary therapy, due to failure of this diet to achieve seizure remission or due to patient preference, including compliance or tolerance issues.
- Subjects must be able to provide informed consent for themselves or have a parent or legally authorized representative (LAR) provide permission if the subject is a minor or lacks capacity to consent.
- Spanish and English speakers will be eligible for participation. Spanish-speaking participants may be enrolled, and the study team is equipped to conduct the consent process in Spanish. The Principal Investigator (PI) is fluent in Spanish and will conduct the consent process in Spanish when applicable.
- IHD-RBCx is determined to be a safe and appropriate procedure for the subject by the transfusion medicine physician based on clinical and laboratory assessment.
Exclusion
- Currently on the ketogenic diet or taking triheptanoin (C7) oil
- No genetic confirmation of G1D diagnosis
- Unable to return for follow up visits
- Weak peripheral veins, such that IV placement is contraindicated (required for transfusion)
- Serious chronic medical conditions, such as congestive heart failure, renal failure, liver failure, or any other medical conditions that preclude large volume transfusions.
- Patients currently pregnant or breast-feeding are excluded from participating in this research. Patients who plan on getting pregnant during this research or who are unwilling to use birth control, including abstinence, during the course of this research are also excluded due to safety concerns for the fetus.
- An evaluation by the transfusion physician as to whether IHD-RBCx is a safe option will be part of the screening assessment. If IHD-RBCx is deemed unsafe based on laboratory parameters such as a low red blood cell count, then the subject will not be eligible to participate in this study.
Key Trial Info
Start Date :
September 1 2027
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
August 1 2031
Estimated Enrollment :
12 Patients enrolled
Trial Details
Trial ID
NCT04137692
Start Date
September 1 2027
End Date
August 1 2031
Last Update
December 11 2025
Active Locations (1)
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1
Weill Cornell Medicine
New York, New York, United States, 10065