Clinical trials: Glucose Transport Defect
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
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