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
Clinical Trial Search
Completed trials with posted results — search by concept, filter by the parameters that matter at the bedside.
N/A N=32 Phase 2 Study of Glycomacropeptide Versus Amino Acid Diet for Management of Phenylketonuria
Phenylketonuria
Primary: Change in the Plasma Phenylalanine Concentration of PKU Subjects Fed the Glycomacropeptide Diet Compared With the Change When Fed the Amino Acid Diet — 62; -85 micro…
Phase 2 N=38 CARNIVAL Type I: Valproic Acid and Carnitine in Infants With Spinal Muscular Atrophy (SMA) Type I
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
Phase 3 N=20 Phenylbutyrate Therapy for Maple Syrup Urine Disease
Maple Syrup Urine Disease
Primary: 0-24 Hour AUC Leucine (Samples Collected at 0, 2, 4, 8, 12, 16, 20, and 24 Hours) — 6217; 4616 micromoles*hour/L
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 1 N=4 Use of Ravicti™ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
Phase 2 N=32 Phase IIa Study of Fomepizole for Acetaldehyde Toxicity After Ethanol Exposure in Subjects With Altered Ethanol Metabolism
Aldehyde Dehydrogenase-2 (ALDH2) Deficiency
Primary: Number of Participants With Adverse Events (AEs), Serious AEs, and AEs Leading to Study Discontinuation — 13; 6; 8; 21 Participants
Phase 2 N=12 Arginine and Buphenyl in Patients With Argininosuccinic Aciduria (ASA), a Urea Cycle Disorder
Argininosuccinic Aciduria · Amino Acid Metabolism, Inborn Errors · Urea Cycle Disorders
Primary: Measures of Liver Function: AST and ALT — 36.2; 52; 31.7; 57.86 IU/L
Phase 4 N=16 Study of Glycerol Phenylbutyrate & Sodium Phenylbutyrate in Phenylbutyrate Naïve Patients With Urea Cycle Disorders (UCDs)
Urea Cycle Disorder
Primary: Rate of Treatment Success (Percentage of Participants Defined as Treatment Success at Week 4) During the Initial Treatment Period — 81.8; 80.0 percentage of participants…
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 4 N=12 Growth and Development Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Recumbent Height/Length of Participants in Centimeters (cm) — 80.4; 93.8; 67.7; 91.1 cm
Phase 4 N=26 A Study of the Safety, Efficacy and Pharmacokinetics of Glycerol Phenylbutyrate in Pediatric Subjects Under 2 Years of Age With Urea Cycle Disorders
Urea Cycle Disorder
Primary: Percentage of Participants With Successful Transition to RAVICTI With Controlled Ammonia (i.e. No Clinical Symptoms and Ammonia < 100 μmol/L): Cohort of 2 Months to <2…
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 2 N=315 A Study to Investigate How Common Pancreatic Exocrine Insufficiency (PEI) is in Patients With Type 2 Diabetes and Also to Investigate the Uptake of a Single Dose of EPANOVA® or OMACOR® in Patients With Different Degrees of PEI
Diabetes Mellitus, Type 2 · Exocrine Pancreatic Insufficiency
Primary: Part A: Serum TG Level. — 2.07; 1.68; 2.00 millimole per litre (mmol/L)
N/A N=65 CoA-Z in Pantothenate Kinase-associated Neurodegeneration (PKAN)
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
Phase 2 N=19 Proton Pump Inhibitors (PPI) and Fat Absorption in Cystic Fibrosis (CF) and Exocrine Pancreatic Insufficiency (EPI)
Pancreatic Insufficiency · Cystic Fibrosis
Primary: Coefficient of Fat Absorption — 80; 77 % fat absorption
Phase 2 N=47 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia
Propionic Acidemia, Type I and/or Type II · Methylmalonic Acidemia · Carbamoyl-Phosphate Synthase I Deficiency Disease
Primary: Time to the Primary Outcome (Earlier of Ammonia <50 µmol/L or Hospital Discharge) — 1.37; 0.79 Hazard Ratio
N/A N=7 Comparative Efficacy of Phenylbutyrate (PBA) vs. Benzoate in Urea Cycle Disorders
Urea Cycle Disorders, Inborn
Primary: Urinary Hippuric Acid — 16.4; 0; 10.5 mmol/24 hours
Phase 2 N=11 Study of the Safety and Tolerability of HPN-100 Compared to Sodium Phenylbutyrate in Children With Urea Cycle Disorders
Urea Cycle Disorders
Primary: Rate of Adverse Events During the Switchover Part of the Study Rate of Adverse Events (Number of Participants Showing Adverse Events) — 4; 2 participants
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
N/A N=16 Evaluation of Phe Fluctuation in PKU Pts Treated With PKU GOLIKE Versus Standard Amino Acid Protein Substitute.
Phenylketonurias
Primary: Blood Phe After 7 Days of Each Treatment — 357.5; 294.0; 346.8; 442.4 µmol/L
Phase 2 N=14 Study to Evaluate Sodium Phenylbutyrate in Pre-symptomatic Infants With Spinal Muscular Atrophy
Spinal Muscular Atrophy
Primary: Safety and Tolerability of Sodium Phenylbutyrate in Neonates and Infants With SMA — 1; 8; 0; 1 Participants
Phase 4 N=13 High Dose or High Dose Frequency Study of Alglucosidase Alfa
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis 2 Acid Maltase Deficiency
Primary: Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment — 0; 0; 0; 1…
N/A N=47 Determinants of Alpha-aminoadipic Acid (2-AAA) and Relationship to Diabetes: Study 2
Healthy
Primary: Change in Plasma 2-AAA Concentration From Baseline — -9.35; 7.02 ng/ml
Phase 2 N=7 IGF-1 Treatment for Individuals With Short Stature Due to PAPP-A2 Deficiency
Short Stature
Primary: Height Velocity — 3.0; 4.3; 6.2; 4.8 cm/y
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
Phase 2 N=13 Safety Study of Recombinant Adeno-Associated Virus Acid Alpha-Glucosidase to Treat Pompe Disease
Pompe Disease
Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL
N/A N=187 PCORI Urea Cycle Disorder Study
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Phase 1 N=71 Pharmacokinetics of Pantoprazole and CYP2C19 Activity in Children and Adolescents With GERD: A Pilot Study
Obesity · GERD
Primary: Pantoprazole Apparent Oral Clearance — 0.42; 0.29; 0.23 L/hr/kg
Phase 3 N=4 Open-Label Study of Uridine Triacetate in Pediatric Patients With Hereditary Orotic Aciduria
Hereditary Orotic Aciduria
Primary: Patients With Stable Predetermined Principal Hematologic Parameters — 4 Participants