Clinical trials: Protein Metabolism Disorder
Lipid Disorders
Genes Involved in Lipid Disorders
Background: Genes are the instructions our body uses to function. Researchers can look for changes, or variants, in the genes. The goal of this study is to find new gene changes that lead to lipid disorders.
- Trial name
- NCT02311335
- Where
- United States
- Volunteers
- 140 people
- Sponsor
- National Heart, Lung, and Blood Institute (NHLBI)
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
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, Epilepsy
Diet Treatment Glucose Transporter Type 1 Deficiency (G1D)
Forty-five subjects receiving no dietary therapy with a proven G1D diagnosis will be enrolled. To evaluate the effect of C7 supplementation of a regular diet on a EEG activity in addition to IQ, language, working memory…
- Conditions
- GLUT1DS1, Epilepsy, Glut1 Deficiency Syndrome 1, Autosomal Recessive, Glucose Metabolism Disorders
- Trial name
- NCT03181399
- Testing
- Triheptanoin
- Where
- United States
- Volunteers
- 45 people
- Sponsor
- University of Texas Southwestern Medical Center
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