A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency S
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).
| Condition(s) | Glut1 Deficiency, GLUT1DS1 |
|---|---|
| Status | Recruiting |
| Phase | Phase 2 |
| Study type | Interventional |
| Summary | 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). |
| Who can participate | 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 mannose-containing supplements within one year of enrollment 4. Presence of hepatic, renal, hematological, or concomitant metabolic disorders, as assessed by the presence of a previous diagnosis of such disor |
| Ages | 18 Years |
| Sex | All |
| Lead sponsor | Oregon Health and Science University |
| Locations | Portland, Oregon, United States |
| Start date | 2026-05-05 |
| NCT ID | NCT07432490 |
| Official listing | https://clinicaltrials.gov/study/NCT07432490 |