30 closest matches · ranked by relevance
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
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
Niemann-Pick Disease, Type C
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.86 score on a scale — p=0.029
Niemann-Pick Disease, Type C
Primary: Parts A/B: Change From Baseline to Week 52 in 4-Item Composite Score of Niemann Pick Type C Severity Scale (NPC-SS) Score — 8.1; 8.8; -0.1; 0.0 score on a scale
Niemann-Pick Disease, Type C
Primary: Change From Baseline in the Niemann-Pick Disease Type C (NPC) Disease Severity Assessed Based on the 5-domain NPCCSS Total Scores — 0.76; 2.15 score on a scale — p=0.0456
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor-Language (ML) Scale Score During 300 mg Dosing Period — 3.5; 3.1; -0.4 units on a scale — p=0.0002
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
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
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 53; 128; 0; 1 number of events
Infantile Neronal Ceroid Lipofuscinosis
Primary: Change in Cellular Granular Osmiophilic Deposits (GRODs) in Electron Micrographs of Peripheral White Blood Cells. — -0.3317 Average number of GRODs
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Gaucher Disease, Type 1 · Cerebroside Lipidosis Syndrome · Glucocerebrosidase Deficiency Disease
Primary: Percentage of Participants Demonstrating A Meaningful Clinical Response — 77 percentage of participants
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 Participants
GM2 Gangliosidosis · Tay-Sachs Disease · Sandhoff Disease
Primary: Clinical Impression of Change in Severity (CI-CS) [Fields et al 2021] — 0.71 score on a scale — p=0.044
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Jansky-Bielschowsky Disease · Batten Disease · Late-Infantile Neuronal Ceroid Lipofuscinosis Type 2
Primary: Motor Language (ML) Scale: Rate of Decline in the 0 to 6-point ML Score. — 0.15; 1.30 change in score/48 wk — p=< 0.0001
Gaucher Disease
Primary: Number of Severe Adverse Events (SAE) — 1 events
Pompe Disease (Late-onset) · Glycogen Storage Disease Type II (GSD-II) · Acid Maltase Deficiency Disease
Primary: Summary of Patients Reporting Treatment-Emergent Adverse Events — 60; 30; 32; 17 participants
Gaucher Disease, Type 1
Primary: Mean Change From Baseline to Month 9 in Hemoglobin (Hgb) Concentration for Each Treatment Group. — 1.624; 1.488 gram per deciliter (g/dl)
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
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
Pompe Disease · Glycogen Storage Disease Type II (GSD-II) · Glycogenesis 2 Acid Maltase Deficiency
Primary: Participants' Efficacy Response During the Treatment Period as Compared to Baseline for Participants With Respiratory Decline on Standard Treatment — 0; 0; 0; 1…
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
Gaucher Disease, Type 1
Primary: Change From Baseline to 12 Months in Hemoglobin Concentration for the 60 U/kg Treatment Group. — 2.429 g/dL — p=<0.0001
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
Mucopolysaccharidosis IIIB
Primary: Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs) — 1; 0; 1 Participants
Pompe Disease
Primary: Safety Assessments of the rAAV1-CMV-GAA (Study Agent), Changes Post Study Agent Administration. — 40,031; 29,638; 5,509,882; 1,907,161 mU/mL