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
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
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
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