L-fucose supplementation for adults with GLUT1 deficiency

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This single-center, randomized, double-blind, placebo-controlled cross-over Phase II trial at Oregon Health & Science University tests oral L-fucose versus placebo in adults with confirmed GLUT1 deficiency and ataxia. Eligible participants are 18 years or older with molecular, CSF, or clinical confirmation of GLUT1DS and will receive both study drug and placebo in separate blinded treatment periods. The protocol requires stable neurological medications for at least 90 days and excludes recent use of fucose- or mannose-containing supplements, with safety and exploratory motor and neurological outcomes collected during each period. The cross-over design lets each participant serve as their own control to detect within-person changes in symptoms.

Why it matters

Who can join: the full rules

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

Where it's running

• Oregon Health and Science University
  Portland, Oregon, United States Recruiting

Study contacts

• Study coordinator: Celena Byerlee-Dixon
• Email: byerlee@ohsu.edu
• Phone: 503-494-7004

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Monitoring brain metabolism using advanced imaging techniques

  This study is testing a new way to monitor how the brain uses energy in people with Glut1 Deficiency Syndrome by using advanced imaging techniques to see how certain labeled nutrients are processed.

  Recruiting Weill Medical College of Cornell University · New York, New York and 1 other locations · NCT05085704

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.