19 closest matches · ranked by relevance
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
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
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Gaucher Disease
Primary: Number of Severe Adverse Events (SAE) — 1 events
Kohlmeier Degos Disease With Neurologic Involvement · Kohlmeier-Degos Disease
Primary: Number of Participants With Stable or no Lesions Developed Based on MRI Neurological Involvement of K-D Disease Following Ruloxitinib — 1; 0; 0 Participants
Aicardi Goutieres Syndrome
Primary: Mean and Standard Deviation (SD) of the AGS Scale at 52 Weeks — 5.9 score on a scale — p=<0.0005
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
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
Gaucher Disease
Primary: Number of Participants With Drug-related Adverse Events (AEs), Infusion-related AEs, and Serious AEs (SAEs) — 2; 0; 2 participants
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Gaucher Disease, Type 3
Primary: Change From Baseline to 12 Months (Week 53) in Hemoglobin Concentration — 2.15 g/dL
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
Juvenile Neuronal Ceroid Lipofuscinosis
Primary: Tolerability - Number of Participants Who Completed Each Arm on Assigned Study Drug Dose — 17; 19 Participants — p=0.21
Phenylketonuria
Primary: Phenylalanine Level in the Brain as Determined by MR Spectroscopy and in Blood — 130; 137; 961 umol/L
Pantothenate Kinase-Associated Neurodegeneration
Primary: Change in Score on Barry-Albright Dystonia Scale — 2.48; 3.99 score on a scale — p=0.0761
Pantothenate Kinase-Associated Neurodegeneration
Primary: Number of Participants With Adverse Events — 22; 42; 12; 14 Participants
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
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