30 closest matches · ranked by relevance
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
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
Variant Late-Infantile Neuronal Ceroid Lipofuscinosis
Primary: Incidence And Severity Of Treatment-Emergent Adverse Events (TEAEs) and Serious Adverse Events (SAEs) — 13; 5; 7; 7 Participants
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
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 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
Juvenile Neuronal Ceroid Lipofuscinosis
Primary: Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose — 17; 19 Participants — p=0.21
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: 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
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Late Infantile Metachromatic Leukodystrophy
Primary: Relative Changes (%) in Gross Motor Function Measurement (GMFM) — -2.98; -5.42; -5.28 Relative % change in total GMFM-88 SOT — p=0.4013
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
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
Pompe Disease
Primary: Number of Participants With Adverse Events — 3; 3; 15 Participants
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
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: Probability of Unreversed 2-point Decline in Motor-language (ML) Score or Score of 0 — 0.13; 0.48; 0.22; 0.91 Probability of decline — p=<0.0001
Unverricht-Lundborg Disease
Primary: Percent Change From Baseline to the End of Treatment Period on the Action Myoclonus Score (Unified Myoclonus Rating Scale (UMRS) Section 4) — 17.45; -4.60; 12.34 Percent…
Cholestasis
Primary: Rate of Rise of Direct Bilirubin as a Function of Time — 1.033001353; 1.05457485; 1.025504411; 1.049318179 mg/dL/day
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Treatment-emergent Adverse Events Assessed Using CTCAE v4.0 — 1.15; 1.38; 1.14; 0.86 Events per person — p=0.50
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
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Nonalcoholic Fatty Liver Disease (NAFLD)
Primary: Improvement in Nonalcoholic Fatty Liver Disease (NAFLD) — 25; 18 participants — p=0.34
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
Dementia With Lewy Bodies
Primary: Functional Connectivity Scores Between Pairs of Large Scale Brain Networks. — 0.164; 0.374; 0.344; 0.340 connectivity score
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: Percentage Of Participants Achieving Alanine Aminotransferase Normalization — 31; 7; 56; 37 percentage of participants — p=0.0271