Phase II Randomized, Double-Blind, Placebo-Controlled Cross-Over Study of L-fucose Supplementation for Adults with GLUT1 Deficiency Syndrome

What this Trial Is About

Researchers are evaluating the effectiveness and safety of L-fucose supplementation in adults diagnosed with GLUT1 deficiency syndrome GLUT1DS, a rare condition affecting glucose transport. This Phase II study uses a randomized, double-blind, placebo-controlled, cross-over design to compare L-fucose treatment to placebo over a 24-week period. The goal is to explore potential improvements in neurological symptoms and assess safety in this population. Participants will receive either L-fucose or placebo for 12 weeks, then switch to the other treatment for another 12 weeks. L-fucose is given orally at a dose of 500 mgkg up to a maximum of 10 grams three times daily. The placebo is a micro-cellulose powder with Stevia to match the taste and dosing schedule. This cross-over approach allows each participant to experience both treatments during the study. During the study, participants undergo regular assessments including neurological scales such as the Scale for the Assessment and Rating of Ataxia SARA and International Cooperative Ataxia Rating Scale ICARS. Safety labs monitor blood counts, liver and kidney function, electrolytes, and other parameters. Researchers also track adverse events reported by participants. Additional measures include evaluations of speech difficulties, migraine frequency, exercise-induced dystonia, seizures, quality of life, and patient-reported health outcomes. The total study duration per participant is 24 weeks, with careful monitoring throughout.

A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome