30 closest matches · ranked by relevance
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
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 · 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
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
Hyperlipoproteinemia Type I · Hypertriglyceridemia
Primary: Fasting Serum Triglycerides — 705; 1827; 1511; 1007 mg/dL
GLUT1DS1 · Epilepsy · Glut1 Deficiency Syndrome 1, Autosomal Recessive
Primary: Neuropsychological Score of Sustained Attention — 11 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
Pulmonary Arterial Hypertension · Familial Primary Pulmonary Hypertension · Primary Pulmonary Hypertension
Primary: Plasma Carnitine Concentration — 44 uM
Prematurity · Neurodevelopmental Disorder · Carnitine Deficiency
Primary: Time to Regain Birthweight in Infants Who Receive L-carnitine Supplementation Compared to Controls — 8.12; 8.4 days — p=<0.05
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
Mitochondrial Diseases
Primary: McMaster Gross Motor Function (GMFM 88) — -0.002; -0.12 units on a scale — p=0.95
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
ALS
Primary: ALS Functional Rating Scale-revised Version (ALSFRS-R) Slope — -0.39; -0.57 points per month — p=0.32
Pediatric Obesity · Insulin Resistance
Primary: Palatability of the High Fat Agent. — 13 Participants — p=0.15
Sarcopenia
Primary: Blood Inflammatory Marker — 2.6; 1.8; 2.9; 1.7 mg·L^-1
Diabetes Mellitus, Type 2
Primary: Alterations in PKC-zeta mRNA in Vastus Lateralis Skeletal Muscles — 1.76; 3.58; 2.14; 2.22 arbitrary units/ng rRNA — p=.001
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
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Spinal Muscular Atrophy
Primary: Safety Labs
Peripheral Vascular Disease · Intermittent Claudication · Peripheral Arterial Disease
Primary: Change From Baseline in Peak Walking Time (PWT) at Day 180 — 0.241; 0.134 Log Minutes — p=0.076
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…
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
Mitochondrial Myopathy
Primary: Change in Distance Walked (Meters) on the 6-minute Walk Test (6MWT) — 13.5; 36.5; 64.5; 20.4 meters
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
Primary Mitochondrial Disease
Primary: Distance Walked on the 6-minute Walk Test (6MWT) by Visit — 394.1; 378.2 meters
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0 — 1.15; 1.38; 1.14; 0.86 Events per person — p=0.50
Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)
Primary: Reported Change in Seizures Frequency From Baseline at 13 Weeks — 4.4; 189.5 seizures/two weeks