Clinical trials: Glut1 Deficiency Syndrome
Glucose Transporter Type 1 Deficiency Syndrome, GLUT1 Deficiency Syndrome
Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
The purpose of this trial is to determine if an alternative energy source will impact brain metabolism in a disorder characterized by glucose metabolism failure in the brain.
- Trial name
- NCT02018315
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 14 people, healthy volunteers welcome
- Sponsor
- Juan Pascual
Glucose Transporter Type 1 Deficiency Syndrome, GLUT1DS1
Red Blood Cell Exchange Transfusion as a Novel Treatment for GLUT1 Deficiency Syndrome
Pathogenic mutations of the brain glucose transporter type I lead to glucose transporter deficiency syndrome (G1D), which is most often associated with medication-refractory epilepsy and movement dysfunction.
- Trial name
- NCT04137692
- Testing
- Red Blood Cell Transfusion
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Weill Medical College of Cornell University
Epilepsy Intractable, Glucose Transporter Type 1 Deficiency Syndrome
Evaluation of Ketoflo
For 28 days, 30 participants aged 3 to 18 years of age (inclusive) with a condition requiring a ketogenic diet will incorporate Ketoflo into their usual dietary regime.
- Conditions
- Epilepsy Intractable, Glucose Transporter Type 1 Deficiency Syndrome, Ketogenic Dieting
- Trial name
- Ketoflo (NCT04399954)
- Testing
- Ketoflo
- Where
- 5 sites in United Kingdom
- Volunteers
- 25 people
- Sponsor
- Vitaflo International, Ltd
Intractable Epilepsy, Glucose Transporter Type 1 Deficiency Syndrome
Evaluation of Keyo in Children With Epilepsy
To evaluate the tolerance, acceptability and compliance of Keyo in 20 subjects aged 3 years and over, with intractable epilepsy or Glut-1 DS on a KD.
- Conditions
- Intractable Epilepsy, Glucose Transporter Type 1 Deficiency Syndrome, Ketogenic Dieting
- Trial name
- Keyo (NCT02915211)
- Testing
- Keyo
- Where
- 2 sites in United Kingdom
- Volunteers
- 17 people
- Sponsor
- Vitaflo International, Ltd
Glut1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome
Post Study Continuation of C7 for G1D
This protocol provides ongoing access to triheptanoin for patients who did complete an initial pilot protocol, and provides the opportunity to collect long-term safety data from patients treated with triheptanoin.
- Trial name
- NCT02018302
- Testing
- Triheptanoin
- Where
- United States
- Sponsor
- Juan Pascual
Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders
Brain Metabolism Observed at 3 Tesla or 7 Tesla in Health and Metabolic Disease
The goal is to develop methodology to monitor flux in the citric acid cycle in brain via 13C nuclear magnetic resonance (NMR) spectroscopy at 7 Tesla or 3 Tesla.
- Conditions
- Glut1 Deficiency Syndrome 1, Glucose Metabolism Disorders, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive
- Trial name
- NCT05085704
- Testing
- Magnetic resonance imaging
- Where
- 2 sites in United States
- Volunteers
- 20 people, healthy volunteers welcome
- Sponsor
- Weill Medical College of Cornell University
GLUT1DS1, Dystonia
Harmonic Ratio in Patients With GLUT1 Deficiency Syndrome
Glucose transporter deficiency syndrome type 1 (GLUT1DS) is a rare, genetically determined, neurometabolic disorder . It is estimated that about 90% of affected patients present various pathological gait patterns.
- Conditions
- GLUT1DS1, Dystonia, Gait Disorders, Neurologic, Gait Ataxia
- Trial name
- NCT05887739
- Testing
- Inertial gait analysis
- Where
- 2 sites in Italy
- Volunteers
- 32 people, healthy volunteers welcome
- Sponsor
- IRCCS National Neurological Institute "C. Mondino" Foundation
Epilepsy, GLUT1DS1
Treatment Development of Triheptanoin (G1D)
To determine the maximum tolerated dose (MTD), as a percentage of calories consumed, of triheptanoin (C7 oil; C7) in a pediatric and adult patient population genetically diagnosed with glucose transporter type 1 deficiency…
- Conditions
- Epilepsy, GLUT1DS1, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders
- Trial name
- NCT03041363
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 12 people
- Sponsor
- Juan Pascual
Glut1 Deficiency Syndrome, De Vivo Disease
Early Diagnosis of the GLUT1 Deficiency Syndrome With a Blood Based Test
The study aims at validating the diagnostic performances of the METAglut1, a blood in vitro diagnostic test, for the simple and early diagnosis of the Glut1 deficiency syndrome (Glut1DS, or De Vivo disease).
- Conditions
- Glut1 Deficiency Syndrome, De Vivo Disease, Seizures, Movement Disorders
- Trial name
- METAglut1 (NCT03722212)
- Testing
- METAglut1
- Where
- 28 sites in France
- Volunteers
- 636 people
- Sponsor
- METAFORA biosystems
GLUT1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome
The Glucose Transporter Type I Deficiency (G1D) Registry
The purpose of this protocol is to create a registry for patients diagnosed with Glucose Transporter Type 1 Deficiency (G1D), or patients experiencing symptoms consistent with G1D but not yet diagnosed, to enter medical…
- Conditions
- GLUT1 Deficiency Syndrome, Glucose Transporter Type 1 Deficiency Syndrome, Glucose Transporter Type1 (GLUT-1) Deficiency, GLUT-1 Deficiency Syndrome
- Trial name
- NCT02013583
- Testing
- No intervention
- Where
- United States
- Volunteers
- 471 people
- Sponsor
- University of Texas Southwestern Medical Center
Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1
Baby Detect : Genomic Newborn Screening
Newborn screening (NBS) is a global initiative of systematic testing at birth to identify babies with pre-defined severe but treatable conditions.
- Conditions
- Congenital Adrenal Hyperplasia, Familial Hyperinsulinemic Hypoglycemia 1, Phosphoglucomutase 1 Deficiency, Maturity Onset Diabetes of the Young
- Trial name
- BabyDetect (NCT05687474)
- Where
- Belgium
- Volunteers
- 6,824 people, healthy volunteers welcome
- Sponsor
- Centre Hospitalier Universitaire de Liege
Ketogenic Dieting, Epilepsy
Evaluation of Krio in Children and Adults With Epilepsy
Acceptability study to evaluate the gastrointestinal tolerance, palatability and participant compliance, over a 7-day period, of Krio for the dietary management of participants with intractable epilepsy or Glut-1 deficiency…
- Conditions
- Ketogenic Dieting, Epilepsy, Glucose Transporter Type 1 Deficiency Syndrome
- Trial name
- Krio (NCT03202108)
- Testing
- Krio
- Sponsor
- Vitaflo International, Ltd
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Phase 2 Study of Triheptanoin (UX007) for the Treatment of Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
The primary objectives of the study are to evaluate the efficacy of UX007 compared to placebo as measured by the reduction from randomization to Week 8 in frequency of seizures and to evaluate the safety of UX007 via adverse…
- Trial name
- NCT01993186
- Testing
- UX007
- Where
- 14 sites in United States, Australia and 5 more
- Volunteers
- 36 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Glut1 Deficiency Syndrome
Phase II Open Label Study Using Triheptanoin in Patients With Glucose Type 1 Transporter Deficiency GLUT1-DS
The purpose of this project is to study the efficacy of triheptanoin oil in patients with GLUT1 deficiency syndrome.
- Trial name
- GLUT-HEP (NCT02014883)
- Testing
- GLUT1 DS
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Spinal Muscular Atrophy, Fragile X Syndrome
Early Check: Expanded Screening in Newborns
Early Check provides voluntary screening of newborns for a selected panel of conditions. The study has three main objectives: 1) develop and implement an approach to identify affected infants, 2) address the impact on infants and…
- Conditions
- Spinal Muscular Atrophy, Fragile X Syndrome, Fragile X - Premutation, Duchenne Muscular Dystrophy
- Trial name
- NCT03655223
- Testing
- Confirmatory Testing
- Where
- United States
- Volunteers
- 30,000 people, healthy volunteers welcome
- Sponsor
- RTI International
Glucose Transporter Type 1 Deficiency Syndrome
Pilot Study of Triheptanoin in Patients With Glucose Transporter 1 Deficiency Syndrome
Glucose transporter deficiency syndrome (Glut1-DS) is a form of pediatric epilepsy caused by a genetic mutation that disrupts the body's ability to process food from the child's diet into sugar (energy) needed to support brain…
- Trial name
- Glut1C7 (NCT02000960)
- Testing
- Triheptanoin
- Where
- Canada
- Volunteers
- 3 people
- Sponsor
- University of British Columbia
Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)
An Open-Label Trial of Triheptanoin in Patients With Glucose Transporter Type-1 Deficiency Syndrome
This study is being done to assess the safety and long-term efficacy of triheptanoin in pediatric patients with Glut1 DS over a 5-year treatment period. Glut 1 is a protein that helps transport glucose to the brain.
- Trial name
- GLUT1DS (NCT02036853)
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- Adrian Lacy
Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
The primary objective of the study was to evaluate the efficacy and safety of UX007 in the treatment of disabling paroxysmal movement disorders associated with Glut1 DS.
- Trial name
- NCT02960217
- Testing
- UX007
- Where
- 12 sites in United States, France and 4 more
- Volunteers
- 44 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Glut1 Deficiency, GLUT1DS1
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).
- Trial name
- NCT07432490
- Testing
- L-fucose
- Where
- United States
- Volunteers
- 16 people
- Sponsor
- Oregon Health and Science University
Glucose Transporter Type 1 Deficiency Syndrome, Glut1 Deficiency Syndrome
Triheptanoin (C7 Oil), a Food Supplement, for Glucose Transporter Type I Deficiency (G1D)
This is a single-site, open-label, phase II trial of C7, a food supplement or medical food, for the development of treatment outcome measures for glucose transporter type I deficiency (G1D). The primary outcome measures are: 1.
- Trial name
- NCT02021526
- Testing
- Triheptanoin
- Where
- United States
- Sponsor
- Juan Pascual