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

ConditionsGlut1 DeficiencyGLUT1DS1
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

This trial does not accept healthy volunteers

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

Design model

Crossover

Treatments tested in this trial

  • L-fucose

    Drug

    L-fucose will be administered as 500 mg/kg to a maximum of 10 g three times per day by mouth.

  • Placebo

    Other intervention

    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.

Treatment groups

16 Participants
are divided into 2 treatment groups
Group A: L-fucose followed by placeboActive comparator 2 interventions
Group B: Placebo followed by L-fucosePlacebo comparator 2 interventions

Trial outcomes

Primary outcomes

1

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

Severity of ataxia and cerebellar involvement as measured by the SARA clinical scales. This score ranges from 0 (no ataxia) to 40 (most severe ataxia)

Time frame
24 weeks
2

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

This modified score suggested by the FDA rates severity of ataxia from 0 (no ataxia) to 16 (most severe ataxia)

Time frame
24 weeks
3

ICARS (International Cooperative Ataxia Rating Scale) Score

This scale score the severity of ataxia and other cerebellar findings from 0 (no compromise) to 100 (maximal impairment)

Time frame
24 weeks
4

Safety labs: hemoglobin

Changes in levels of hemoglobin in g/dL

Time frame
24 weeks

Secondary outcomes

1

Severity of dysarthria

Number of "PA-TA" repetitions over 10 seconds ("PATA Rate Test")

Time frame
24 weeks
2

Frequency and severity of migraines

Frequency and severity of migraines captured at a diary for 1 week, at the last week of each study arm.

Time frame
24 weeks
3

Frequency of paroxysmal exercise-induced dystonia

Frequency of paroxysmal exercise-induced dystonic episodes, captured at a diary for 1 week, at the last week of each study arm.

Time frame
24 weeks
4

Frequency of seizures

Frequency and duration of seizures captured at a diary for 1 week, at the last week of each study arm.

Time frame
24 weeks

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Oregon Health and Science University

Lead sponsor

Glut1 Deficiency Foundation

Collaborator

Source ClinicalTrials.gov
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