30 closest matches · ranked by relevance
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
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
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
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
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
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
Juvenile Neuronal Ceroid Lipofuscinosis
Primary: Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose — 17; 19 Participants — p=0.21
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
Batten Disease
Primary: Number of Treatment-emergent Adverse Events. — 6 Participants
Neurofibromatosis 1 · Neurofibroma, Plexiform
Primary: Median Time to Disease Progression — 13.2 Months
Cholestasis
Primary: Rate of Rise of Direct Bilirubin as a Function of Time — 1.033001353; 1.05457485; 1.025504411; 1.049318179 mg/dL/day
Cholestasis of Parenteral Nutrition
Primary: Number of Participants With Cholestasis — 1; 3; 7 Participants — p=0.590
Parenteral Nutrition Associated Cholestasis
Primary: Number of Participants With Parenteral Nutrition Associated Cholestasis — 6; 6 Participants — p=0.94
Nonalcoholic Fatty Liver Disease (NAFLD)
Primary: Improvement in Nonalcoholic Fatty Liver Disease (NAFLD) — 25; 18 participants — p=0.34
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
Neurofibromatosis 1
Primary: Change From Baseline in Motor Function Measured by Physical and Neurological Examination for Subtle Signs (PANESS) — 0; 3 score on a scale
Parenteral Nutrition Associated Liver Disease
Primary: Number of Participants With Resolution of the Direct Hyperbilirubinemia — 29 Participants
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
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
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Retinitis Pigmentosa · Usher Syndrome Type 2 · Usher Syndrome Type 3
Primary: Mean Change in Cone Spacing in Arcminutes (Z Score) of 2 Baseline Values Were Compared With Measurements Obtained at Post-op Month 36 — 1.13; 0.85 Difference in change…
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
Prematurity · Intestine Perforation · Necrotizing Enterocolitis (NEC)
Primary: The Serum Biomarkers of Inflammatory Cytokines
Infant of Diabetic Mother · Oxidative Stress · Vagus Nerve Stimulation
Primary: Daily Oral Feeding Volumes : Difference in Mean Increase — 2.1 ml/kg/day po daily change — p=0.009
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
Neurofibromatosis Type 1 · Plexiform Neurofibroma
Primary: Change From Baseline Target Tumor Volume at 12 Months — 27; 17 Participants
Plexiform Neurofibroma
Primary: Number of Participants With Imaging Response in Strata 1 and 2 — 0; 1; 1; 0 participants
Neurofibromatosis Type 1 · Reading Disabilities
Primary: Change From Baseline in WJ-III Basic Reading Normative Update (Woodcock Johnson Psychoeducational Battery - 3rd Edition; WJ-III NU) Standard Score at 15 Hours — 13.50…