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Could swapping out red blood cells help treat a rare seizure disorder?

NCT ID NCT04137692

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused This study
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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

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

About 12 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

Sep 2027

An estimate. Start dates often move.

Expected to finish

Aug 2031

An estimate. End dates often move.

Lead sponsor

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

16 to 80 years

Sex

Anyone

Healthy volunteers

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

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.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. 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.

    Open the record ↗

  3. 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

  • Weill Cornell Medicine

    New York, New York, 10065, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.