Encephalopathy due to GLUT1 deficiency
MONDO:0011724Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.
Also known as: De Vivo disease, GLUT1 deficiency syndrome 1, infantile onset, severe, GLUT1 deficiency syndrome type 1, GLUT1-DS, Glucose Transporter Type 1 Deficiency Syndrome, encephalopathy due to GLUT1 deficiency, glucose transporter type 1 deficiency, glut-1 deficiency syndrome
12 clinical trials for this condition and its sub-types, 5 tagged with Encephalopathy due to GLUT1 deficiency itself.
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Could a simple sugar help people with rare brain disorder?
Disease control Recruiting nowThis study tests whether a sugar called L-fucose can improve movement and coordination in adults with GLUT1 deficiency syndrome, a rare genetic disorder that affects the brain's energy supply. Sixteen participants will receive either fucose or a placebo for a period, then switch,…
Phase 2 • Sponsor: Oregon Health and Science University • Aim: Disease control
Last updated Jun 27, 2026 12:34 UTC
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Scientists peek inside Brain's fuel gauge in rare sugar disorder
Knowledge-focused Recruiting nowThis study aims to develop a better way to measure how the brain uses sugar (glucose) for energy. Researchers will use advanced MRI-like scans at 3 or 7 Tesla strength in 20 healthy volunteers and people with Glut1 deficiency, a rare condition that affects brain fuel. Participant…
Sponsor: Weill Medical College of Cornell University • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC