A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome
Trial statusRecruiting
Trial phasePhase 2
Trial typeInterventional
Biological sexAll
Age18+
SponsorOregon Health and Science University
About this trial
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).
Eligibility criteria
Qualifiers
Age ≥ 18 years
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)
Presence of ataxia
Disqualifiers
Inability to swallow liquids
Change in neurological medications (either medication itself or medication dosages) in the past 90 days
Use of fucose- or mannose-containing supplements within one year of enrollment
Any degree of hepatic impairment based on the Child-Pugh classification
Trial design
Treatments tested in this trial
- L-fucose
- Placebo
Treatment groups
16 Participants
are divided into 2 treatment groupsSponsors and collaborators
Oregon Health and Science University
Lead sponsor
Glut1 Deficiency Foundation
Collaborator
Source ClinicalTrials.gov