Clinical trials: Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
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
Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies
The primary objective of this study is to evaluate the long-term safety and efficacy of UX007 in participants with LC-FAOD. The secondary objectives of this study are to evaluate the effect of UX007 on energy metabolism in…
- Conditions
- Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency, Trifunctional Protein (TFP) Deficiency
- Trial name
- NCT02214160
- Testing
- UX007
- Where
- 11 sites in United States, United Kingdom
- Volunteers
- 94 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Carnitine Palmitoyltransferase Deficiency 2
Oral Ketones and Exercise Among Patients With Long-chain Fatty Acid Oxidation Disorders
The purpose of the study is to determine if an oral ketone beverage is safe and well-tolerated during moderate intensity exercise in participants with long-chain fatty acid oxidation disorders and if it will raise blood ketones…
- Conditions
- Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency, Carnitine Palmitoyltransferase Deficiency 2, Very Long Chain Acyl Coa Dehydrogenase Deficiency, Trifunctional Protein Deficiency
- Trial name
- NCT05411835
- Testing
- Nutritional Ketone Supplement
- Where
- United States
- Volunteers
- 5 people
- Sponsor
- Oregon Health and Science University
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
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency
A Study of UX007 (Triheptanoin) in Participants With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD)
The primary objective of the study was to evaluate the impact of UX007 on acute clinical pathophysiology associated with LC-FAOD following 24 weeks of treatment.
- Conditions
- Long-chain Fatty Acid Oxidation Disorders (LC-FAOD), Carnitine Palmitoyltransferase (CPT II) Deficiency, Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency, Longchain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
- Trial name
- NCT01886378
- Testing
- UX007
- Where
- 10 sites in United States, United Kingdom
- Volunteers
- 29 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
Long-Chain Fatty Acid Oxidation Disorders In-Clinic Disease Monitoring Program
The primary objective of this study is to assess the long-term safety, including pregnancy, infant, and lactation outcomes, of patients with LC-FAOD who are enrolled in the DMP.
- Trial name
- NCT04632953
- Testing
- No Intervention
- Where
- 16 sites in United States, Canada
- Volunteers
- 150 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Carnitine Palmitoyltransferase II Deficiency, Very Long Chain Acyl Coa Dehydrogenase Deficiency
Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects
The investigators propose to evaluate the effect of bezafibrate on metabolism during exercise in 22 adult patients affected with carnitine palmitoyltransferase II (CPTII) or very-long chain acyl-CoA-dehydrogenase (VLCAD)…
- Trial name
- Bezafibrate (NCT00983788)
- Testing
- Bezafibrate
- Where
- Denmark
- Volunteers
- 12 people
- Sponsor
- Copenhagen University Hospital, Rigshospitalet
Long Chain Fatty Acid Oxidation Disorders
Expanded Access to Triheptanoin
Expanded access may be provided for qualified patients who have limited treatment options and are not eligible for a clinical trial.
- Trial name
- NCT03773770
- Testing
- Triheptanoin
- Sponsor
- Ultragenyx Pharmaceutical Inc
Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease
Selective Screening of Children for Hereditary Metabolic Diseases by Tandem Mass Spectrometry in Kazakhstan
Inborn errors of metabolism (IEM) are not have specific clinical signs, they masquerade as other diseases, and are difficult to diagnose using only clinical manifestations or routine laboratory tests.
- Conditions
- Propionic/Methylmalonic Acidemias, Maple Syrup Urine Disease, Citrullinemia, Argininosuccinic Aciduria
- Trial name
- NCT05910151
- Testing
- Obtaining Dry Blood Spots From Healthy Newborns (Aged 1-7 Days), Obtaining Dry Blood Spots From Healthy Children Aged 8 Days - 7 Years, Obtaining Dry Blood Spots From Healthy Children Aged 8-18 Years
- Where
- Kazakhstan
- Volunteers
- 2,250 people, healthy volunteers welcome
- Sponsor
- West Kazakhstan Medical University
Inborn Errors of Metabolism
Nutritional Therapy of the Deficits of Oxidation Mitochondrial of the Fatty Acids
Usual dietary therapies of mitochondrial fatty acid oxidation disorders (FAO) are based on 3 strategies: limitation of lipid intake in the diet; supplementation of the diet with medium-chain triglycerides (MCT) for patients…
- Trial name
- NCT00328159
- Testing
- Oil special 107 and MYGLIOL 810
- Where
- France
- Volunteers
- 20 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
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
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD)
A Study to Determine the Effect of Triheptanoin Compared With Even-Chain MCT on MCEs in Pediatric Patients With LC-FAOD
The main goal of this study is to evaluate the effects of triheptanoin versus Medium-chain Triglycerides (MCT) on frequency of Major Clinical Events (MCEs).
- Trial name
- NCT05933200
- Testing
- Triheptanoin, MCT Oil
- Where
- 15 sites in Czechia, Germany and 5 more
- Volunteers
- 69 people
- Sponsor
- Ultragenyx Pharmaceutical Inc
Urea Cycle Disorder, Organic Acidemia
Systemic Biomarkers of Brain Injury From Hyperammonemia
Ammonia is a waste product of protein and amino acid catabolism and is also a potent neurotoxin. High blood ammonia levels on the brain can manifest as cytotoxic brain edema and vascular compromise leading to intellectual and…
- Conditions
- Urea Cycle Disorder, Organic Acidemia, Maple Syrup Urine Disease, Glutaric Acidemia I
- Trial name
- NCT04602325
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Children's National Research Institute
Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency
High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
The study also determines if eating a diet higher in protein alters body composition, energy balance and metabolic control among patients with a long-chain fatty acid oxidation disorder.
- Conditions
- Very Long-chain Acyl-CoA Dehydrogenase Deficiency, Trifunctional Protein Deficiency, Carnitine Palmitoyltransferase 2 Deficiency, Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
- Trial name
- NCT01494051
- Testing
- Diet counseling
- Volunteers
- 13 people
- Sponsor
- Oregon Health and Science University