30 closest matches · ranked by relevance
Carnitine Palmitoyltransferase (CPT I or CPT II) Deficiency · Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency · Long-chain 3-hydroxy-acyl-CoA Dehydrogenase (LCHAD) Deficiency
Primary: Annualized LC-FAOD Major Clinical Events (MCEs) Rate: 18 Months Pre- and Entire UX007 Period Comparison for UX007-CL201-Rollover Cohort — 1.76; 1.00 events/year — p=0.0347
Very Long-chain acylCoA Dehydrogenase (VLCAD) Deficiency · Carnitine Palmitoyltransferase 2 (CPT2) Deficiency · Mitochondrial Trifunctional Protein (TFP) Deficiency
Primary: Energy Expenditure — -73; 107 kcal/day
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
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
Long-chain Fatty Acid Oxidation Disorders (LC-FAOD) · Carnitine Palmitoyltransferase (CPT II) Deficiency · Very Long Chain Acyl-CoA Dehydrogenase (VLCAD) Deficiency
Primary: Change From Baseline in Time Adjusted-Area Under the Curve (AUC/Time) for Workload During Cycle Ergometry at Week 24 — 423.594 watts — p=0.1518
Medium-chain Acyl-CoA Dehydrogenase (MCAD) Deficiency
Primary: Metabolic Stress
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
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Severe Familial Hypercholesterolemia
Primary: Number of Participants With Adverse Events — 94; 174; 76; 143 Participants
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
Type 2 Diabetes
Primary: MYCL — 0.54; 0.44; 0.35; 0.36 percentage of water signal
Niemann-Pick Disease, Type C
Primary: Efficacy of Adrabetadex (VTS-270) to Reduce Plasma Levels of a Conjugated Bile Acid, Known as 5α-cholanic Acid-3β, 5α, 6β-triol N-(Carboxymethyl)-Amide — 32.6; 87.9 ng/ml
Lysosomal Acid Lipase Deficiency
Primary: Percentage Of Participants Achieving Alanine Aminotransferase Normalization — 31; 7; 56; 37 percentage of participants — p=0.0271
Lysosomal Acid Lipase Deficiency · Wolman Disease
Primary: Percentage Of Participants In The Primary Efficacy Analysis Set (PES) Surviving To 12 Months Of Age — 67 Percentage of participants
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Familial Chylomicronemia Syndrome (FCS)
Primary: Percent Change in Fasting Triglycerides From Baseline to 12 Weeks — 45.6; 3.7; -13.9 percent change — p=0.0538
Mitochondrial Diseases
Primary: McMaster Gross Motor Function (GMFM 88) — -0.002; -0.12 units on a scale — p=0.95
Spinal Muscular Atrophy
Primary: Safety Labs
Diabetes Mellitus, Type 1
Primary: Immediate Verbal Memory — 15.85; 17.36; 14.97; 13.28 units on a scale
Pompe Disease (Late-Onset) · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis Type II
Primary: Summary of Participants Reporting Treatment-Emergent Adverse Events For Participants Treated With Alglucosidase Alfa During Study AGLU02704 (NCT00158600) — 60; 37; 21…
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Essential Fatty Acid Deficiency (EFAD)
Primary: Number of Participants to Develop Essential Fatty Acid Deficiency (EFAD) Defined by Holman Index > 0.4 — 0; 0 Participants
Glucose Transporter Type-1 Deficiency Syndrome (Glut1 DS)
Primary: Reported Change in Seizures Frequency From Baseline at 13 Weeks — 4.4; 189.5 seizures/two weeks
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
Lysosomal Acid Lipase Deficiency
Primary: Participants Experiencing Severe Treatment-emergent Adverse Events (TEAEs) — 1; 1; 2 Participants
Sphingomyelin Lipidosis
Primary: Number of Participants With Treatment Emergent Adverse Events (TEAEs), Treatment Emergent Serious Adverse Events (TESAEs) and Adverse Events of Special Interest (AESIs)…
ALS
Primary: ALS Functional Rating Scale-revised Version (ALSFRS-R) Slope — -0.39; -0.57 points per month — p=0.32
Cholesterol Ester Storage Disease (CESD) · Lysosomal Acid Lipase Deficiency · LAL-Deficiency
Primary: Number Of Participants Reporting TEAEs And IARs — 8; 1; 2; 0 Participants
Parenteral Nutrition-related Hepatitis
Primary: Disease Progression as Measured by Serum Levels of Hepatic Enzymes