Oregon Health and Science University
This is a single-center, randomized, double-blind, placebo-controlled, cross-over study to evaluate the efficacy and safety of L-fucose supplementation in subjects with GLUT1 deficiency syndrome (GLUT1DS).
Inclusion Criteria: 1. Age ≥ 18 years 2. Confirmed diagnosis of GLUT1DS, including at least 2 out of the following 3: molecular genetic testing showing a pathogenic or likely pathogenic variant in SLC2A1; documented hypoglycorrhachia with a CSF:blood glucose ratio ≤ 0.6; clinical features consistent with GLUT1DS (epilepsy, movement disorders, ataxia, intellectual disability, dysarthria) 3. Presence of ataxia Exclusion Criteria: 1. Inability to swallow liquids 2. Change in neurological medications (either medication itself or medication dosages) in the past 90 days 3. Use of fucose- or manno…
L-fucose will be administered as 500 mg/kg to a maximum of 10 g three times per day by mouth.
Placebo will be composed of micro-cellulose powder with a small amount of Stevia for taste mimicking, to be taken at 500 mg/kg for a maximum of 10 g three times per day by mouth.
Arctuva estimate
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