Could swapping out red blood cells help treat a rare seizure disorder?
NCT ID NCT04137692
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study tests whether replacing a patient's own red blood cells with healthy donor cells can improve brain function in people with GLUT1 deficiency syndrome, a rare genetic condition that causes seizures and movement problems. The approach aims to boost glucose delivery to the brain by using donor cells that have normal glucose transporters. The trial plans to enroll 12 people aged 16 to 80 who have not been helped by the standard ketogenic diet.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- red blood cell exchange transfusion
- What this could lead to
- If it works, this could point toward a new way to treat GLUT1 deficiency by improving glucose delivery to the brain, potentially reducing seizures and movement problems.
- What could go wrong
- This is a very early, small trial (12 people) that is currently suspended. The treatment is complex and carries risks like transfusion reactions or infection. It may not improve symptoms or could cause harm.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Phase
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Not a phased trial
Phase numbers describe drug development. The registry uses this when they do not apply, as it does for trials of devices, procedures or behaviour changes, and for observational studies.
- Participants
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About 12 people
The number the study aims to enrol. It can still change while the study runs.
- Expected to start
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Sep 2027
An estimate. Start dates often move.
- Expected to finish
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Aug 2031
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
- Ages
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16 to 80 years
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
Inclusion Criteria: 1. Male or Female 2. Age 16 years to 80 years old. 3. Diagnosed with genetically confirmed glucose transporter type 1 disorder 4. 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. 5. 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. 6. 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. 7. 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 Criteria: 1. Currently on the ketogenic diet or taking triheptanoin (C7) oil 2. No genetic confirmation of G1D diagnosis 3. Unable to return for follow up visits 4. Weak peripheral veins, such that IV placement is contraindicated (required for transfusion) 5. Serious chronic medical conditions, such as congestive heart failure, renal failure, liver failure, or any other medical conditions that preclude large volume transfusions. 6. 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. 7. 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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
How to take part
Only the study team decides who joins. These are the ways to reach them.
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The places running it
1 site. The list below names each one and where it is.
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The official record
The full official record for this study. This one lists no contact details, but it is the first place any would appear.
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A doctor treating you
A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.
Contacts and locations
Locations
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Weill Cornell Medicine
New York, New York, 10065, United States
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