30 closest matches · ranked by relevance
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
Primary: Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover Cohort — 1.76; 1.00 events/year — p=0.0347
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Primary: Glucose Disposal Rate (Rd)- the Rate of Glucose Infusion to Maintain Euglycemia During Steady State Insulin Infusion in mg/Min — 709; 429; 842; 497 mg/min — p=0.136
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency · Carnitine Palmitoyltransferase 2 (CPT2) Deficiency · Mitochondrial Trifunctional Protein (TFP) Deficiency
Primary: Energy Expenditure — -73; 107 kcal/day
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) · Carnitine Palmitoyltransferase (CPT II) Deficiency · Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Primary: Change From Baseline in Time Adjusted-Area Under the Curve (AUC/Time) for Workload During Cycle Ergometry at Week 24 — 423.594 watts — p=0.1518
Trifunctional Protein Deficiency
Primary: An Outcome of This Study is the Difference in Percent Body Fat (%BF) Between Subjects With a Long-chain Fatty Acid Oxidation Disorder and Normal Controls. — 31.8; 27.2…
Familial Partial Lipodystrophy
Primary: Change in the Liver Triglycerides (TG). — 13.2; 6.4; 12.3; 10.6 percentage of liver triglycerides
Type 2 Diabetes
Primary: MYCL — 0.54; 0.44; 0.35; 0.36 percentage of water signal
Heart Failure · Obesity · Type 2 Diabetes Mellitus
Primary: The Primary Endpoint is to Determine if PET/CT Measurements of Myocardial FA Metabolism Performed With [18F]FluorbetaOx Correlated With Those Performed With…
Pediatric Obesity · Insulin Resistance
Primary: Palatability of the High Fat Agent. — 13 Participants — p=0.15
Cerebral Metastases
Primary: Quantitative Measurement of [18F]FPIA Uptake Within the Cerebral Metastases of Treatment naïve Patients. — 1.54; 1.47; 1.48 SUV_max (kBq/L/kBq/g)
Familial Chylomicronemia Syndrome (FCS)
Primary: Percent Change in Fasting Triglycerides From Baseline to 12 Weeks — 45.6; 3.7; -13.9 percent change — p=0.0538
Type 2 Diabetes · Obesity
Primary: Insulin Sensitivity — 8 m value — p=<0.05
Retinopathy of Prematurity
Primary: Changes in mRNA Expression in Blood of STAT3, PPAR-ɣ, and STC-1 at T0 — 4.19; 7.58; 6.43; 11.32 delta Ct (amplification cycles) — p=0.22
Non-Alcoholic Fatty Liver Disease
Primary: Participants With Normalized Liver Enzyme Levels — 0; 0 Participants
Chronic Pancreatitis
Primary: Malabsorption Blood Test: Difference in Mean HA AUC Between Groups: Subjects With CP Compared to Healthy Subjects — 8.3; 17.7 mg*h/dL — p=<0.001
Parenteral Nutrition-related Hepatitis
Primary: Disease Progression as Measured by Serum Levels of Hepatic Enzymes
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Non-Alcoholic Fatty Liver Disease
Primary: Percentage of Liver Fat — -7.9; -4.6 percentage of liver fat — p=0.48
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Glioma
Primary: Quantitative Measurement of [18F]-FPIA Uptake in Human Gliomas — 0.9041; 1.3529; 2.0470 SUV60_max
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Hepatic Steatosis
Primary: Hepatic Triglyceride (%) — 15.9; 14.8 Fat/Fat+Water (%) — p=0.42
Essential Fatty Acid Deficiency (EFAD)
Primary: Number of Participants to Develop Essential Fatty Acid Deficiency (EFAD) Defined by Holman Index > 0.4 — 0; 0 Participants
Autism Spectrum Disorder
Primary: Pervasive Developmental Disorder Behavior Inventory (PDDBI) - Autism Composite — 115.5; 106.5; 98.1; 91.4 raw score on a scale
Obesity · Overweight · Metabolic Diseases
Primary: Change From Baseline Amount of Fat Oxidation at 14 Days — 0.91; 0.94 Fold change of RQ ratio
Autism Spectrum Disorder
Primary: Bioavailability — 1.95; 1.80; 3.00; 0.80 mol%
Lipoprotein Metabolism · PCSK9 · Proteomics
Primary: Changes From Baseline in Lipid Profile at 8 Weeks — 52; 56.1; 184.3; 181.7 mg/dL
Parenteral Nutrition Associated Liver Disease
Primary: Number of Participants With Resolution of the Direct Hyperbilirubinemia — 29 Participants
Mitochondrial Diseases
Primary: McMaster Gross Motor Function (GMFM 88) — -0.002; -0.12 units on a scale — p=0.95