30 closest matches · ranked by relevance
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Carnitine Palmitoyltransferase 2 Deficiency
Primary: Energy Expenditure — 2045; 2343 kcal
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 · 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
Lysosomal Acid Lipase Deficiency
Primary: Percentage Of Participants Achieving Alanine Aminotransferase Normalization — 31; 7; 56; 37 percentage of participants — p=0.0271
Cholesterol Ester Storage Disease (CESD) · Lysosomal Acid Lipase Deficiency · LAL-Deficiency
Primary: Number Of Participants Reporting TEAEs And IARs — 8; 1; 2; 0 Participants
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
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: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
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)…
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
Cholesterol Ester Storage Disease(CESD) · Lysosomal Acid Lipase Deficiency · LAL-Deficiency
Primary: Number Of Participants Reporting TEAEs And Infusion-Related Reactions (IRRs) — 1; 3; 3; 0 participants
Severe Familial Hypercholesterolemia
Primary: Number of Participants With Adverse Events — 94; 174; 76; 143 Participants
Lysosomal Acid Lipase Deficiency
Primary: Participants Experiencing Severe Treatment-emergent Adverse Events (TEAEs) — 1; 1; 2 Participants
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
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
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…
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
Familial Partial Lipodystrophy
Primary: Change in the Liver Triglycerides (TG). — 13.2; 6.4; 12.3; 10.6 percentage of liver triglycerides
ALS
Primary: ALS Functional Rating Scale-revised Version (ALSFRS-R) Slope — -0.39; -0.57 points per month — p=0.32
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
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
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
Alagille Syndrome
Primary: Change From MRX Baseline to Week 48 in Fasting Serum Bile Acid (sBA) — 223.62; 157.35 μmol/L — p=0.1157
Hepatic Steatosis
Primary: Hepatic Triglyceride (%) — 15.9; 14.8 Fat/Fat+Water (%) — p=0.42
X-linked Adrenoleukodystrophy
Primary: Change in Maximal Voluntary Contraction of the Hip Flexors From Baseline to End of Training and to Post-training — 0.94; 0.98; 1.32; 1.37 kg
Familial Partial Lipodystrophy · Nonalcoholic Steatohepatitis · NAFLD
Primary: Percent Change in Fasting Triglyceride Levels — 55.76 percentage of change from baseline
Adenosine Deaminase Deficiency · Severe Combined Immunodeficiencies (SCID)
Primary: Overall Survival (OS) of Subjects Treated With Investigational Medicinal Product (IMP) (1 Year) — 100; 100; 100; 100 percentage of participants