Red Blood Cell Transfusion for Glut1 Deficiency Syndrome

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Waitlist Available

Led By Juan Pascual, MD, PhD

Research Sponsored by Juan Pascual

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Diagnosed with genetically-confirmed glucose transporter type 1 disorder

Age 16 years to 64 years old

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, immediately after transfusion, and 60 days after transfusion

Awards & highlights

Study Summary

This trial is to test whether isovolemic hemodilution-red cell exchange (IHD-RBCx) can improve symptoms in patients with neurological disorders.

Who is the study for?

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.Check my eligibility

What is being tested?

The study tests if a red blood cell exchange transfusion can treat GLUT1 Deficiency Syndrome. Five patients will receive matched donor red cells aiming to replace 70% of their own red cells. The procedure follows protocols used in sickle cell anemia treatment and includes pre- and post-transfusion assessments plus two-month follow-up exams.See study design

What are the potential side effects?

Potential side effects may include reactions similar to those seen in blood transfusions such as allergic reactions, fever, iron overload, infection risk from donated blood, lung injury related to transfusion (TRALI), or complications from mismatched blood types.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I have been diagnosed with a genetic glucose transporter type 1 disorder.

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I am between 16 and 64 years old.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, during transfusion, and 60 days after transfusion

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, during transfusion, and 60 days after transfusion

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, during transfusion, and 60 days after transfusion for reporting.

Treatment Details

Study Objectives

Outcome measures can provide a clearer picture of what you can expect from a treatment.

Primary outcome measures

Electroencephalography

Secondary outcome measures

Change in General Medical & Neurological Examination

Change in neuropsychological attention scores

Change in neuropsychological expressive language test battery

+2 more

Trial Design

1Treatment groups

Experimental Treatment

Group I: Red Blood Cell TransfusionExperimental Treatment1 Intervention

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.

0 / 2Eligibility criteria met