30 closest matches · ranked by relevance
Lesch-Nyhan Disease
Primary: Number of Participants With Clinically Significant Changes in Standard Laboratory Tests — 0 Participants
Adenine Phosphoribosyltransferase Deficiency
Primary: Urinary 2,8-dihydroxyadenine Excretion — 116; 45; 13 mg/24-h — p=<.05
Brain Diseases, Metabolic, Inborn · Urea Cycle Disorder · Ornithine Transcarbamylase Deficiency
Primary: Concentration of Glutamine and Myoinositol by MRS — 4.97; 3.66; 3.78; 4.50 mM — p=0.003
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
Mucopolysaccharidosis (MPS)
Primary: Number of Treatment Emergent Serious Adverse Events (SAE) — 5; 3; 2 events
Kinky Hair Syndrome
Primary: Gross Motor Development at 36 Mos of Age or at Death (Mos) — 13.743; 2.455; 15.667 Other - months
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Gout
Primary: Reduction in Plasma Uric Acid to Less Than 6 mg/dL. — 17 Participants
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
Hyperoxaluria
Primary: Mean Percent Conversion of Hydroxyproline (Hyp) to Urinary Oxalate (UOx) — 12.8; 32.9; 14.8 percent converted
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
Hypophosphatasia
Primary: Effect of Asfotase Alfa Treatment on Skeletal Manifestations of Hypophosphatasia (HPP) — 2.00 scores on a scale
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Neimann-Pick Disease
Primary: Number of Participants With Tolerabilty of 200 mg Vorinostat in Niemann-Pick Disease, Type C1 — 12 Participants
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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
Urea Cycle Disorders
Primary: Venous Ammonia Levels at the Peak and Mean TNUAC Time-normalized Area Under the Curve) — 79.1; 56.3; 38.4; 26.5 μmol/L
Alkaptonuria
Primary: Change in Total ROM Worse Hip — -9.1; 1.6 degrees
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Pseudohypoparathyroidism · Albright Hereditary Osteodystrophy
Primary: Intelligence Quotient — 85.9; 104.3; 103.2 units on a scale
Hypophosphatasia
Primary: Change From Baseline to Week 24 for Plasma Pyridoxal-5' Phosphate (PLP) — -254.96; -564.27; 3.13; -397.72 ng/mL — p=0.0285
Argininosuccinic Aciduria · Amino Acid Metabolism, Inborn Errors · Urea Cycle Disorders
Primary: Measures of Liver Function: AST and ALT — 36.2; 52; 31.7; 57.86 IU/L
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
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
Hunter Syndrome · Mucopolysaccharidosis II (MPS II)
Primary: Change From Baseline in Mean Percent Predicted Forced Vital Capacity (FVC) at Week 105 — -0.056 percent predicted FVC
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
Alkaptonuria
Primary: Homogentisic Acid Excretion — 1425.9; 113.1; 34.0 uM
Hereditary Sensory and Autonomic Neuropathy Type I
Primary: Charcot Marie Tooth Neuropathy Score — 25.67; 20.22 scores on a scale