Not Yet RecruitingPhase 2

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

United States16 participantsStarted 2026-05

Plain-language 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

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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

Exclusion criteria

✕. 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
✕. Presence of hepatic, renal, hematological, or concomitant metabolic disorders, as assessed by the presence of a previous diagnosis of such disorders (for instance, chronic kidney disease, liver cirrhosis, diabetes mellitus) or by the following laboratory values, which will be considered if obtained clinically up to 90 days before enrollment (if this is not available, laboratory tests will be obtained prior to first study visit):
✕. Any degree of hepatic impairment based on the Child-Pugh classification
✕. eGFR (as measured by serum creatinine or cystatin C) \< 60 mg/min/1.73m2
✕. Hemoglobin A1c \> 6.5%
✕. Hemoglobin level below the lower limit of normal (LLN) for sex and age

What they're measuring

SARA (Scale for the Assessment and Rating of Ataxia) Score

Timeframe: 24 weeks

Modified SARA (Scale for the Assessment and Rating of Ataxia) score

Timeframe: 24 weeks

ICARS (International Cooperative Ataxia Rating Scale) Score

Timeframe: 24 weeks

Safety labs: hemoglobin

Timeframe: 24 weeks

Safety labs: white blood cell count

Timeframe: 24 weeks

Safety labs: platelet count

Timeframe: 24 weeks

Safety labs: lactate dehydrogenase

Timeframe: 24 weeks

Safety labs: alanine-aminotransferase

Timeframe: 24 weeks

Safety labs: aspartate-aminotransferase

Trial details

NCT IDNCT07432490

SponsorOregon Health and Science University

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2027-05

Contact for this trial

Celena Byerlee-Dixon

503-494-7004 byerlee@ohsu.edu

View on ClinicalTrials.gov More Glut1 Deficiency trials

Who can participate

Age range18 Years

SexALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion criteria

✓. 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

Exclusion criteria

✕. 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
✕. Presence of hepatic, renal, hematological, or concomitant metabolic disorders, as assessed by the presence of a previous diagnosis of such disorders (for instance, chronic kidney disease, liver cirrhosis, diabetes mellitus) or by the following laboratory values, which will be considered if obtained clinically up to 90 days before enrollment (if this is not available, laboratory tests will be obtained prior to first study visit):
✕. Any degree of hepatic impairment based on the Child-Pugh classification
✕. eGFR (as measured by serum creatinine or cystatin C) \< 60 mg/min/1.73m2
✕. Hemoglobin A1c \> 6.5%
✕. Hemoglobin level below the lower limit of normal (LLN) for sex and age

What they're measuring

SARA (Scale for the Assessment and Rating of Ataxia) Score

Timeframe: 24 weeks

Modified SARA (Scale for the Assessment and Rating of Ataxia) score

Timeframe: 24 weeks

ICARS (International Cooperative Ataxia Rating Scale) Score

Timeframe: 24 weeks

Safety labs: hemoglobin

Timeframe: 24 weeks

Safety labs: white blood cell count

Timeframe: 24 weeks

Safety labs: platelet count

Timeframe: 24 weeks

Safety labs: lactate dehydrogenase

Timeframe: 24 weeks

Safety labs: alanine-aminotransferase

Timeframe: 24 weeks

Safety labs: aspartate-aminotransferase