30 closest matches · ranked by relevance
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
Healthy
Primary: Change in Plasma 2-AAA Concentration From Baseline — -9.35; 7.02 ng/ml
Diabetes Mellitus, Type 2
Primary: Change in Level of 13C 2-AAA in Plasma — 1.742 uM*Hr
Arginase I Deficiency · Hyperargininemia
Primary: Change From Baseline in Plasma Arginine Concentration After 24 Weeks of Treatment — 0.244; 0.918 micromolar — p=<0.0001
Healthy
Primary: Peak Plasma 2-AAA Concentration Percentage Change From Baseline — 63.4 Percentage Change
Anemia, Sickle Cell
Primary: Gardos Channel Activity — -0.0342; 0.0043; 0.1076 mmol/10^13 cells x min — p=0.080
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Arginase 1 Deficiency
Primary: Change From Baseline in Plasma Arginine Concentrations in Subjects <24 Months of Age With Arginase 1 Deficiency (ARG1-D). — -221.53 μM
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
Sickle Cell Disease · Vaso-occlusive Pain Episode
Primary: Total Parenteral Opioid Use in IV Morphine Equivalents — 1.77; 1.95; 2.36 mg/Kg
Schizophrenia
Primary: Change From Baseline in Mean Positive and Negative Syndrome Scale (PANSS) Total and Positive, Negative and General Psychopathology Subscale Scores at 3 Weeks — 71.6…
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
Autism Spectrum Disorder
Primary: Aberrant Behavior Checklist (ABC) - Parent Reported Change — -2.4 score on a scale — p=0.56
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Metabolic Disease · Seizures
Primary: Change From Baseline on the Adaptive Behavior Assessment System (ABAS) Test at the End of the Study Drug and Placebo Treatment Periods — 5.2; 4.5 scores on a scale
Angelman Syndrome · Nervous System Diseases
Primary: Average Change in Functioning in Specific Areas of Development, Including Speech and Communications Skills, Cognitive Abilities and Daily Living Skills — 5.7; 4.7; 5.8…
Sphingomyelin Lipidosis
Primary: Percent Predicted (% Predicted) Hemoglobin (Hb) and Altitude-Adjusted Diffusing Capacity of the Lung for Carbon Monoxide (DLco) at Baseline — 48.45; 49.44 % Predicted DLco
Sanfilippo Syndrome
Primary: Number of Participants With Overall Response Using Bayley Scales of Infant Development Assessment Third Edition (BSID-III) — 0; 2; 1 participants — p=0.4615
Hereditary Orotic Aciduria
Primary: Patients With Stable Predetermined Principal Hematologic Parameters — 4 Participants
Severe Sepsis · Acute Lung Injury
Primary: Vasopressor Dependency Index — 50.0; 44.4; 49.0 mmHg/catecholamine index — p=0.86
Asthma
Primary: Number of Asthma Exacerbations in Three Months — 30; 31 exacerbations
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
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Sickle Cell Disease
Primary: Time-to-crisis Resolution — 81.5; 88.6 hours
Atrial Septal Defect · Ventricular Septal Defect · Atrioventricular Septal Defect
Primary: L-citrulline Plasma Levels — 200.9; 34.1; 2405.9; 29.5 µmol/L
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
Sickle Cell Disease
Primary: Number of Participants With Adverse Events — 4 Participants
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Acute Liver Failure · Acute Liver Injury
Primary: Number of Participants That do Not Tolerate the Administered Dose and Had Grade 3 or 4 Treatment Emergent Adverse Events as a Measure of Safety and Tolerability — 0; 0…