Phase 2 N=20 EPI-743 for Metabolism or Mitochondrial Disorders
Mitochondrial Disease · Neurology · Myopathy
Primary: Newcastle Paediatric Mitochondrial Disease Scale (NPMDS) Part I-III, Baseline — 23.9; 20.4 Units on a scale
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
Phase 3 N=135 Stem Cell Transplant for Inborn Errors of Metabolism
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Overall Survival — 120; 92; 81 Participants
Phase 3 N=12 Betaine and Peroxisome Biogenesis Disorders
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
N/A N=41 Fatty Acid Oxidation Defects and Insulin Sensitivity
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
Phase 1 N=14 Treatment Development for Glucose Transporter Type I Deficiency Syndrome (G1D)
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
Phase 2 N=38 HSCT for High Risk Inherited Inborn Errors
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
N/A N=46 Neurologic Injuries in Adults With Urea Cycle Disorders
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
N/A N=121 Developmental Regulation of Proteins Responsible for Transforming Drugs in the Body
Healthy
Primary: Change in CYP2D6 Drug Metabolism Phenotype With Age — -1.974; -2.083; -2.162; -2.073 unitless ratio — p=0.035
N/A N=53 Congenital Sucrase-Isomaltase Deficiency (CSID) Genetic Prevalence Study (GPS)
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Phase 3 N=5 GlycoCholic Acid Treatment for Patients With Inborn Errors in Bile Acid Synthesis
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
Phase 2 N=61 Heart Rate Variability in Response to Metformin Challenge
Fibromyalgia · Mitochondrial Diseases · Movement Disorders
Primary: Heart Rate Variability (Time Domain) — 0.92; 0.83 msec/msec — p=0.77
Phase 2 N=13 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
Phase 2 N=22 Hydroxyproline Influence on Oxalate Metabolism
Hyperoxaluria
Primary: Mean Percent Conversion of Hydroxyproline (Hyp) to Urinary Oxalate (UOx) — 12.8; 32.9; 14.8 percent converted
Phase 2 N=46 Allogeneic Bone Marrow Transplant for Inherited Metabolic Disorders
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
N/A N=360 Alcohol Metabolism and Disease Risk in Asians
Healthy
Primary: Peak Number of Alcohol Drinks Consumed in a Day — 3.7; 4.2; 3.4; 3.0 drinks — p=.81
N/A N=98 Dietary Ketosis: Fatty Acids Activate AMPK Energy Circuits Modulating Global Methylation
Mild Cognitive Impairment · Metabolic Syndrome
Primary: MoCA (Montreal Cognitive Assessment) — 28.38; 20.22 score on a scale — p=<0.0001
N/A N=27 Erythrocyte and Adipocyte G6PD Activity Levels in Obesity
Diabetes · Obesity
Primary: Measure Erythrocyte G6PD Levels in Diabetic vs. Non-diabetic Morbidly Obese Patients Undergoing Laparoscopic Gastric Bypass. — 3.12; 0.67; 22; 13 nM/min/mg — p=<0.05
N/A N=47 Females, Aging, Metabolism, and Exercise
Obesity
Primary: Change in Physical Activity Energy Expenditure (PAEE) — 74.5; -10.2; 61.0 kcal/day
N/A N=20 Hepatic Mitochondrial Function in Youth
Hepatic Steatosis · Bariatric Surgery Candidate · Adolescent Obesity
Primary: Change in Percentage of Liver Fat Per MRI — -13.93 percentage of liver fat
N/A N=10 Glutathione Metabolism in Adolescents With Type 1 Diabetes - Study A
Diabetes Mellitus, Type 1
Primary: Glutathione Concentration — 541; 551 umol/L
Phase 3 N=85 Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Infantile Refsum's Disease · Zellweger Syndrome · Adrenoleukodystrophy
Primary: Number of Participants With Excretion of Atypical Bile Acids in Urine by Category — 10; 51; 11; 9 Participants
Phase 3 N=53 Open Label, Continuation Study of Cholic Acid in Subjects With Inborn Errors of Bile Acid Synthesis
Bile Acid Synthesis Defect
Primary: Change in Atypical Urinary Bile Acid Excretion by FAB-MS (Fast-Atom-Bombardment Ionization-Mass Spectrometry) — 25; 6; 10; 10 Participants
N/A N=157 Defective Atypical Protein Kinase C (PKC) Activation in Diabetes and Metabolic Syndrome
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
N/A N=26 Fatty Acid Oxidation Disorders & Body Weight Regulation Grant
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…
Phase 2 N=14 Oxidative Stress Markers In Inherited Homocystinuria And The Impact Of Taurine
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
N/A N=274 Pathogenesis of Adverse Drug Reactions
Seizures
Primary: Drug (Valproic Acid or Carbamazepine) Metabolite Profiles in Urine — 15.2; 13.1; 1.15; 2.13 nmol per mg creatinine
Phase 4 N=20 Metabolic Abnormalities in HIV-infected Persons
Lipodystrophy · HIV Infection
Primary: Change in Insulin Sensitivity From Baseline to Week 12 Post-treatment With Insulin Sensitizing Agent — -0.25; -0.96 mg/kg lean body mass/min
N/A N=15 High-fat Meal Challenge in Pediatrics
Pediatric Obesity · Insulin Resistance
Primary: Palatability of the High Fat Agent. — 13 Participants — p=0.15
N/A N=82 Fructose Consumption and Metabolic Dysregulation
Central Obesity · Hypertriglyceridemia
Primary: TG Plasma AUC — 1130; 1220 mmol/l*min — p=0.005
N/A N=90 FGF-21 Levels and RMR in Children and Adolescents With Hashimoto's Thyroiditis (THYROMETABOL)
Hashimoto Disease
Primary: Fibroblast Growth Factor 21 (FGF-21) — 182.71; 217.36; 198.43 pg/mL