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
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
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
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
Smith-Lemli-Opitz Syndrome
Primary: Number of Responders — 18 Participants
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
Parenteral Nutrition Associated Liver Disease
Primary: Number of Participants With Resolution of the Direct Hyperbilirubinemia — 29 Participants
Retinitis Pigmentosa · X-linked Genetic Diseases
Primary: Rate of LOSS of 31 Hertz Cone Electroretinographic Function — 0.028; 0.022 log microvolts/year — p=0.30
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
Spinal Muscular Atrophy Type I
Primary: Laboratory Safety Data
Niemann-Pick Disease, Type C
Primary: Oxysterol Levels — 28.09; 27.64 ng/mL
Neurofibromatosis 1 · Neurofibroma, Plexiform
Primary: Median Time to Disease Progression — 13.2 Months
Hypophosphatasia (HPP)
Primary: Change in Rickets Severity From Baseline to Week 24, Based on Assessment of Skeletal Radiographs Using Radiologic Global Impression of Change (RGI-C) — 2.00 Units on a…
Parenteral Nutrition Associated Cholestasis
Primary: Normalization of Conjugated Bilirubin (Conjugated Bilirubin < 2 mg/dL) — 2 mg/dl
Cholestasis
Primary: Rate of Rise of Direct Bilirubin as a Function of Time — 1.033001353; 1.05457485; 1.025504411; 1.049318179 mg/dL/day
Smith-Lemli-Opitz Syndrome
Primary: Serum Cholesterol to Total Sterol Ratio — 90.82; 93.99 percent total cholesterol — p=0.002
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
Cholestasis of Parenteral Nutrition
Primary: Number of Participants With Cholestasis — 1; 3; 7 Participants — p=0.590
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Hypophosphatasia (HPP)
Primary: Survival — 270.5 days
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Retinopathy of Prematurity · Neonatal Cholestasis
Primary: Number of Participants With Retinopathy of Prematurity — 2; 13 participants
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
Parenteral Nutrition-Associated Liver Disease
Primary: The Presence of Cholestasis at Age of 28 Days or When Full Enteral Nutrition is Achieved, Whichever is Longer. — 39; 45 participants who developed Cholestasis
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Molybdenum Cofactor Deficiency, Type A
Primary: Overall Survival — 3 Participants