Clinical Trial Information
Clinical trials are research studies that test new medical treatments, procedures, interventions, and devices in people.
Purposes:
- Determine if a new treatment is safe and effective
- Compare new treatments to existing treatments
- Learn how to prevent or detect diseases
- Improve quality of life for people with chronic illnesses
How clinical trials work:
- Clinical trials are carefully designed and reviewed by an institutional review board (IRB)
- Trials are conducted in phases, with early phases focusing on safety and dosing and later phases focusing on effectiveness
- Pre-clinical work is often done with cell and animal models before moving to human trials
Benefits:
- Help scientists better understand diseases and conditions
- Advance treatments and ways to prevent diseases
- Help people feel more active in their health
- Help people learn more about their diseases and conditions
- Help people access new treatments that may be more effective than existing treatments
Examples of clinical trials:
- New drugs or combinations of drugs
- New medical procedures
- New medical devices
- New therapies or behavioral interventions
The GLUT1 Deficiency Foundation urges prospective clinical trial participants to carefully examine each project, its purpose, its informed consent paperwork, and the protocol for the study in order to make the most informed decisions. Changes in care and decisions about clinical trial participation should be made under the guidance of trusted healthcare professionals knowledgeable about GLUT1 Deficiency and familiar with individual patient needs. Learn more about clinical studies from the National Institutes of Health here and from the GLUT1 Deficiency Foundation's Research Ready Series Project here.
clinical trial opportunities
L-Fucose as a potential treatment:
A Phase II Study With Exploratory Outcomes of Fucose Supplementation in GLUT1 Deficiency Syndrome. 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:
- 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
Principal Investigator: Rodrigo Starosta, MD, PhD
Study Site: Oregon Health and Science University - Portland, Oregon
Anticipated Start Date: May 2026
learn more
summary of community meeting with Dr. Rodrigo Starosta
clinicaltrials.gov listing
*Dr. Starosta is able to see patients of any age in clinic outside the formal trial, including those who would like to use fucose as an independent treatment option.
Diazoxide as a potential treatment:
This is a multiple ascending dose feasibility study to examine the effectiveness of Diazoxide in increasing glucose levels in individuals with GLUT1 Deficiency.
A multiple ascending dose feasibility study is an early-phase clinical trial designed to evaluate the safety, tolerability, and metabolism of a drug when it is given multiple times, typically over several days or weeks.
Aims:
- Determine if Diazoxide can increase fasting blood glucose levels in people with GLUT1 Deficiency.
- Determine if Diazoxide can increase post-meal glucose levels measured by a Mixed Meal Tolerance Test (MMTT).
- Determine if Diazoxide can increase the average blood glucose level over a 7-day period, as measured by continuous glucose monitoring (CGM), compared to the patient’s baseline.
Eligibility:
- Confirmed diagnosis of GLUT1 Deficiency.
- At least 2 years of age.
- Not currently following a classical ketogenic diet (patients on the Modified Atkins Diet are eligible).
- No known allergies to Diazoxide.
Principal Investigators: Paul Thornton, MD
Study Site: Cook Children's Medical Center - Fort Worth, Texas
Anticipated Start Date: now enrolling
learn more
summary of community meeting with Dr. Paul Thornton
Relutrigine as a potential treatment:
Praxis Precision Medicines is now enrolling for their EMERALD Study – open to individuals with Developmental and Epileptic Encephalopathies (DEE’s) caused by genetic epilepsies and syndromes like GLUT1 Deficiency.
The Emerald Study will test a new treatment called Relutrigine. This medication is being studied as an add-on therapy to help reduce seizures.
Eligibility:
- Ages 2–65 in the U.S., Europe, Australia, and South America
- Had 4 or more motor seizures in the past 4 weeks
- May currently use and remain on a ketogenic diet or other treatments
Participation Options:
- Remote, in-clinic, or hybrid enrollment
- Expanded access may be available after the trial
Principal Investigators: multiple
Anticipated Start Date: now enrolling
Sponsor: Praxis Precision Medicines
learn more
video presentation from Praxis
LP352 (Bexicaserin) as a potential treatment:
Lundbeck is now enrolling for their DEEp OCEAN Study – open to individuals with Developmental and Epileptic Encephalopathies (DEE’s) caused by syndromes like GLUT1 Deficiency.
The DEEp OCEAN Study will test a new medication. The DEEp OCEAN clinical study is assessing the safety of the investigational drug and its potential to reduce the number of seizures in children and adults with DEE.
Eligibility:
- Ages 2 to 65 who have been diagnosed with Developmental and Epileptic Encephalopathies (DEE)
- Experienced the onset of seizures from birth to 5 years old
- Averaged at least 4 observable motor seizures per month for the past 3 months
- Are willing and able or have a caregiver who can maintain study diaries throughout the DEEp OCEAN study
Participation Options:
- Multiple international clinical trial sites
- Expanded open label access may be available after the trial
Principal Investigators: multiple
Anticipated Start Date: now enrolling
Sponsor: Lundbeck
learn more (international)
learn more (US)
UCB7538 (staccato alprazolam) as a potential treatment:
UCB is now enrolling for their STARS Study – Standing Together Against Prolonged Seizures.
The STARS Study is testing an inhaler containing an investigational drug that has been designed to potentially stop a prolonged seizure once it has begun.
Eligibility:
- Are 12 years of age or older
- Have focal or generalized epilepsy, or a combination of the two
- Have experienced 2 prolonged seizures that last more than 3 minutes within the past 3 months.
- Have an adult who can act as a study partner to assist you throughout the study
Participation Options:
- Multiple international clinical trial sites in the US, Europe, Asia, and Australia
Principal Investigators: multiple
Anticipated Start Date: now enrolling
Sponsor: UCB
ClinicalTrials.gov:
Find a listing of recent, current, and future clinical trial studies for Glucose Transporter Type1 Deficiency Syndrome.
FDA Resources:
The FDA recognizes the unique challenges drug developers face in demonstrating the safety and effectiveness of drugs that treat rare diseases and have provided educational content based on the needs of rare disease drug development stakeholders.
Research Ready Series:
The G1DF's Research Ready Series was a special project to help build a strong, patient-centered research foundation and increase research literacy in our community. Find resources to help better understand research and the clinical trial process.