30 closest matches · ranked by relevance
Hyperinsulinism-Hyperammonemia Syndrome
Primary: Tolerability of Vitamin E Based on Responses to a Subject/Parent-reported Symptom Questionnaire After Vitamin E Supplementation Compared to Baseline — 2 Participants
Congenital Hyperinsulinism · Hyperinsulinism · Persistent Hyperinsulinemic Hypoglycemia of Infancy
Primary: The Accuracy of FDOPA PET to Identify Focal Forms of Hyperinsulinism — 40; 6; 3; 46 Participants
Congenital Hyperinsulinism
Primary: Number of Subjects With Clinically Meaningful Reduction in Glucose Infusion Rate (Double-Blind) — 2; 0 Participants
Congenital Hyperinsulinism (CHI) · Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)
Primary: Accuracy of 18F-DOPA PET/CT Scans to Detect Focal Lesions in Children With Congenital Hyperinsulinism — 34; 10; 4; 52 cases
Diabetes Complications · Hypoglycemia
Primary: Percent Enrichment of Bicarbonate as Measured by Magnetic Resonance Spectroscopy (MRS) — 61.9 % enrichment — p=0.0053
Congenital Hyperinsulinism
Primary: Median of Average Daily Percent Time Within a Glucose Target Range of 70-180 mg/dL (3.9-10 mmol/L) by CGM at Baseline (BL) and End of Treatment (EOT) — 81.7; 72.9; 83.4…
Urea Cycle Disorders
Primary: Rate of Adverse Events (Number of Participants Who Experienced Any AE Considered Related to Study Drug) — 33 participants
Congenital Hyperinsulinism
Primary: Mean Blood Glucose Area Under the Curve (AUC 0-6h) — 2,096; 1,678 mmol*min/L
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
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
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
Congenital Hyperinsulinism
Primary: Mean Intravenous Glucose Infusion Rate — 4.33; 9.51 mg/kg/minute — p=0.0037
Hyperinsulinism · Diabetes · Pancreatic Diseases
Primary: Mean Plasma Glucose Level. — 149.666118; 162.574753 mg/dL
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
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
Polycystic Ovarian Syndrome · Obesity · Hepatic Steatosis
Primary: Hepatic Fat Fraction — 8; 7.3 percent hepatic fat
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
Phelan McDermid Syndrome
Primary: ABC - Social Withdrawal Subscale — 10.31; 4.6; 14.8; 6.2 score on a scale
PCOS
Primary: Renal Clearance of D-chiroinositol (DCI) at 12 Days — 4.75; 5.16 ml/min
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
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
Diabetes · Metabolic Syndrome · Insulin Resistance
Primary: Insulin Sensitivity — 3.06; 3.33 units on a scale
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
Hunter Syndrome
Primary: Change From Baseline in the Differential Ability Scales, Second Edition (DAS-II) General Conceptual Ability (GCA) Standard Score at Week 52 — -7.4; -4.4 Score on a scale…
Polycystic Ovarian Syndrome · Obesity · Hepatic Steatosis
Primary: Hepatic Fat Fraction — 8.35 Percent
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
22q13 Deletion Syndrome · Phelan-McDermid Syndrome
Primary: Change in Aberrant Behavior Checklist - Social Withdrawal (ABC-SW) Subscale - Study 1 — 15.78; 11.22; 7.61; 9.70 score on a scale
Type I Diabetes Mellitus
Primary: Insulin Sensitivity — 0.1; 0.07 mL/kg/min per uU/mL
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale