Clinical trials: Very Long-chain Acyl-CoA Dehydrogenase Deficiency
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
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2)
Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism
This is a compassionate use study to allow patients already taking triheptanoin (C7) through previous studies to continue to receive the supplement.
- Conditions
- Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency, Carnitine Palmitoyltransferase Deficiencies (CPT1, CPT2), Mitochondrial Trifunctional Protein Deficiency, Long-chain Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01461304
- Testing
- triheptanoin
- Where
- United States
- Sponsor
- Jerry Vockley, MD, PhD
Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency
Fatty Acid Oxidation Defects and Insulin Sensitivity
The purpose of this study is to learn more about what causes insulin resistance. It has been suggested that proper breakdown of fat into energy (oxidation) in the body is important to allow insulin to keep blood sugar in the…
- Conditions
- Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02517307
- Testing
- Intralipid/Heparin, Glycerol/Saline, Hyperinsulinemic euglycemic clamp
- Where
- United States
- Volunteers
- 41 people, healthy volunteers welcome
- Sponsor
- Oregon Health and Science University
Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors
Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
This study aims to characterize the pathophysiological mechanisms of 21 different metabolic myopathies. The study will focus on exercise capacity and the metabolic derangement during exercise.
- Conditions
- Metabolism, Inborn Errors, Lipid Metabolism, Inborn Errors, Carbohydrate Metabolism, Inborn Errors, Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT02635269
- Testing
- Sugar
- Where
- Denmark
- Volunteers
- 60 people, healthy volunteers welcome
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Long-Chain Fatty Acid Oxidation Disorders Online Disease Monitoring Program
The objectives of this study are to characterize the disease impact, the disease management and resource utilization, and provide benefits to the LC-FAOD community, by use of a convenient online platform for participants (or…
- Trial name
- NCT04812106
- Testing
- No Intervention
- Where
- United States
- Volunteers
- 8 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Mitochondrial Diseases, Kearns-Sayre Syndrome
Global Registry and Natural History Study for Mitochondrial Disorders
The main goal of the project is provision of a global registry for mitochondrial disorders to harmonize previous national registries, enable world-wide participation and facilitate natural history studies, definition of outcome…
- Conditions
- Mitochondrial Diseases, Kearns-Sayre Syndrome, MIDD, SANDO
- Trial name
- GENOMIT (NCT05554835)
- Where
- 34 sites in Austria, Germany and 1 more
- Volunteers
- 6,000 people
- Sponsor
- LMU Klinikum