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.
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Real-World study tracks Epidyolex's Long-Term impact on seizures
Disease control OngoingThis study follows 158 people in France who are prescribed Epidyolex (a cannabidiol-based medicine) for seizures as part of their normal care. Researchers will track how long people stay on the treatment, side effects, seizure frequency, and changes in daily functioning and quali…
Sponsor: Jazz Pharmaceuticals • Aim: Disease control
Last updated Jun 27, 2026 14:00 UTC
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Could swapping out red blood cells help treat a rare seizure disorder?
Disease control TerminatedThis 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…
Phase: NA • Sponsor: Weill Medical College of Cornell University • Aim: Disease control
Last updated Jun 27, 2026 08:03 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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New inhaler aims to stop prolonged seizures fast and safely
Symptom relief ENROLLING_BY_INVITATIONThis study tests the long-term safety of an inhaled medication called Staccato alprazolam for people aged 12 and older who have prolonged seizures. About 300 participants will use the inhaler when a seizure starts to see if it stops the seizure quickly and without serious side ef…
Phase: PHASE3 • Sponsor: UCB Biopharma SRL • Aim: Symptom relief
Last updated Aug 16, 2026 00:00 UTC