30 closest matches · ranked by relevance
Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol — 2.61; 1.66; 2.23; 2.69 mM — p=0.001
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
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
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
Ornithine Transcarbamylase (OTC) Deficiency
Primary: Number of Participants With Adverse Events (AEs), Treatment-Emergent Adverse Events (TEAEs), Serious Adverse Events (SAEs), Deaths, and TEAEs Leading to Discontinuation…
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
Hereditary Orotic Aciduria
Primary: Patients With Stable Predetermined Principal Hematologic Parameters — 4 Participants
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…
Urea Cycle Disorders
Primary: The Primary Endpoint Was the 24-hour Area Under the Curve for Blood Ammonia (NH324-hour AUC) on Days 14 and 28. — 976.6; 865.35 μmol∙h/L
Urea Cycle Disorders
Primary: Venous Ammonia Levels at the Peak and Mean TNUAC Time-normalized Area Under the Curve) — 79.1; 56.3; 38.4; 26.5 μmol/L
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
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
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
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…
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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…
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Urea Cycle Disorder
Primary: Liver Stiffness as Measured by Shear Wave Elastography — 13; 14 Participants
Hyperoxaluria
Primary: Mean Percent Conversion of Hydroxyproline (Hyp) to Urinary Oxalate (UOx) — 12.8; 32.9; 14.8 percent converted
Urea Cycle Disorders
Primary: Rate of Adverse Events (Number of Participants Who Experienced Any AE Considered Related to Study Drug) — 33 participants
GTP Cyclohydrolase Deficiency
Primary: Change in BH4 Levels in Cerebral Spinal Fluid — 6; 10.7; 5.3; 13.2 nmol/L
Autism Spectrum Disorder
Primary: Preschool Language Scales — 7.6 Raw score units / 16 weeks
Urea Cycle Disorders
Primary: Adverse Events — 0; 6 participants
Acute Episode of Overt Hepatic Encephalopathy · Hepatic Encephalopathy
Primary: Percentage of Participants in Each HE Stage — 11; 6; 30; 40 percentage of participants
BH4 Deficiency · Hyperphenylalaninemia
Primary: Number of Participants With Treatment-Emergent Adverse Events (TEAEs) — 2; 2; 4; 3 Participants
Urea Cycle Disorders, Inborn
Primary: Urinary Hippuric Acid — 16.4; 0; 10.5 mmol/24 hours
Urea Cycle Disorders
Primary: Number of Participants With at Least One Adverse Event — 34; 40 Participants
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
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