30 closest matches · ranked by relevance
Alagille Syndrome
Primary: Change From Baseline to Endpoint (Week 13/Early Termination) in Pruritus — -1.470; -1.486; -0.620; -0.580 Score on a scale — p=0.0321
Alagille Syndrome (ALGS)
Primary: Change in Fasting Serum Bile Acid (sBA) Levels From Week 18 to Week 22 — 17.643 micromoles per liter (mcmol/L)
Alagille Syndrome
Primary: Change From Week 18 to Week 22 in Fasting sBA Levels in Participants Who Had a Reduction in sBA ≥50% From Baseline to Week 12 or Week 18 — -21.73; 95.55 μmol/L — p=0.0464
Progressive Familial Intrahepatic Cholestasis · Alagille Syndrome · Cholestatic Liver Disease
Primary: Frequency of Treatment-emergent Adverse Events [TEAEs] — 16; 10; 4; 3 Participants
Alagille Syndrome
Primary: Change From Baseline in Scratching Score — -1.69; -0.8 score on a scale — p=0.0012
Alagille Syndrome
Primary: Change From MRX Baseline to Week 48 in Fasting sBA Levels — 261.96; 128.32 μmol/L — p=0.0012
Alagille Syndrome
Primary: Change From Baseline to Week 13 (End of Treatment) in Fasting Serum Bile Acid Level — -82.864; -49.388; -66.126; -42.157 umol/L — p=0.5740
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
Cholestatic Liver Disease
Primary: Incidence of Treatment-Emergent Adverse Events — 36; 12; 9; 4 Participants
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Aicardi Goutieres Syndrome
Primary: Mean and Standard Deviation (SD) of the AGS Scale at 52 Weeks — 5.9 score on a scale — p=<0.0005
Severe Familial Hypercholesterolemia
Primary: Number of Participants With Adverse Events — 94; 174; 76; 143 Participants
Lysosomal Acid Lipase Deficiency
Primary: Percentage Of Participants Achieving Alanine Aminotransferase Normalization — 31; 7; 56; 37 percentage of participants — p=0.0271
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
ALPS · Hypersplenism · Lymphadenopathy
Primary: Number of Participants With Response — 0 participants
Hypercholesterolemia
Primary: Percent Change in Measured Serum Low-Density Lipoprotein Cholesterol (LDL-C) From Baseline to Day 15 — -62.48; -8.77; -48.21; -4.93 percent change — p== 0.0009
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
Gaucher Disease
Primary: Number of Severe Adverse Events (SAE) — 1 events
Familial Partial Lipodystrophy · Hypertriglyceridemia · Fatty Liver
Primary: Change in Fasting Serum Triglyceride (at 12 Weeks) — -0.44; -20.27 percent change — p=0.517
Heterozygous Familial Hypercholesterolemia
Primary: Percent Change From Baseline to Week 24 in LDL-C — -6.23; -44.53 percent change — p=< 0.0001
Smith-Lemli-Opitz Syndrome
Primary: Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). — 8.6; 8.6 units on a scale — p=1.0
Alport Syndrome
Primary: Number of Participants With Adverse Events Associated With Administration of 0.75 mg/kg of ELX-02 Once Daily — 3 Participants
Sjogren-Larsson Syndrome
Primary: Visual Index Ichthyosis Severity (VIIS) Scaling Score as Assessed by the Investigator in ADX-102 Treated Patients — -0.7 units on a scale
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 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
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 · Lipoprotein Lipase Deficiency · Hyperlipoproteinemia Type 1
Primary: Absolute Change From Baseline to Month 3 in Fasting Triglycerides (TG) — -550.00 mg/dL
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