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

Purpose

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).

Conditions

  • Glut1 Deficiency
  • GLUT1DS1

Eligibility

Eligible Ages
Over 18 Years
Eligible Sex
All
Accepts Healthy Volunteers
No

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 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): 1. Any degree of hepatic impairment based on the Child-Pugh classification 2. eGFR (as measured by serum creatinine or cystatin C) < 60 mg/min/1.73m2 3. Hemoglobin A1c > 6.5% 4. Hemoglobin level below the lower limit of normal (LLN) for sex and age 5. Platelet counts below the LLN for sex and age 5. Subjects who are pregnant, breastfeeding, or planning to become pregnant within one year of enrollment 6. Enrollment in an investigational new drug trial for G1DS within one year of enrollment

Study Design

Phase
Phase 2
Study Type
Interventional
Allocation
Randomized
Intervention Model
Crossover Assignment
Primary Purpose
Treatment
Masking
Triple (Participant, Investigator, Outcomes Assessor)

Arm Groups

ArmDescriptionAssigned Intervention
Active Comparator
L-fucose followed by placebo 		L-fucose for 12 weeks, followed by placebo for 12 weeks.
  • Drug: L-fucose
    L-fucose will be administered as 500 mg/kg to a maximum of 10 g three times per day by mouth.
    Other names:
    • fucose
  • Other: Placebo
    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.
Placebo Comparator
Placebo followed by L-fucose 		Placebo for 12 weeks, followed by L-fucose for 12 weeks.
  • Drug: L-fucose
    L-fucose will be administered as 500 mg/kg to a maximum of 10 g three times per day by mouth.
    Other names:
    • fucose
  • Other: Placebo
    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.

Recruiting Locations

Oregon Health and Science University
Portland, Oregon 97239
Contact:
Celena Byerlee-Dixon, MS, CCRP
971-334-1942
byerlee@ohsu.edu

More Details

Status
Recruiting
Sponsor
Oregon Health and Science University

Study Contact

Celena Byerlee-Dixon
503-494-7004
byerlee@ohsu.edu