29 closest matches · ranked by relevance
Barth Syndrome
Primary: Part 1: Distance Walked During the 6-Minute Walk Test (6MWT) by Visit — 400.1; 412.6; 443.1; 443.9 meters
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Homocystinuria
Primary: Difference in Thiobarbituric Acid Reactive Substances (TBARS) in Individuals With Cystathionine Beta Synthase Deficient Homocystinuria (CBSDH) Pre and Post Taurine…
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Cerebrotendinous Xanthomatosis (CTX)
Primary: Number of Participants Who Had Positive Genetic Test Results — 4 Participants
Rothmund-Thomson Syndrome
Primary: Bone Density (Low Areal Bone Mineral Density (aBMD)) — -1.3; -0.9; -2.4; -1.2 z-score
Barrett's Esophagus
Primary: Change in Ki67 Biomarker Expression — 1539; 1556; 1575; 1864 cells/mm^2
Down Syndrome · Trisomy 21
Primary: Non-HDL Cholesterol — 128; 107 mg/dl
Mucopolysaccharidosis · Hurler Syndrome · Hunter Syndrome
Primary: Number of Patients With Donor Derived Engraftment — 42 Participants
Sanfilippo Syndrome Type A (MPS IIIA)
Primary: Safety as Measured by Adverse Events Frequencies (by Type and Severity) — 174; 355; 0; 1 events
Glucose Transporter Type 1 Deficiency Syndrome · GLUT1 Deficiency Syndrome
Primary: Number of Participants With Reduction in Spike-wave Fraction of the EEG Recording Time — 13 Participants
Smith-Lemli-Opitz Syndrome
Primary: Change in Plasma Cholesterol — 37.8 change (%) compared to baseline — p=0.011
Lysosomal Storage Disease · Peroxisomal Disorder
Primary: Donor (Allogeneic) Hematopoietic Engraftment — 1 participants
Mucopolysaccharidosis IIIB
Primary: Number Of Participants Who Experienced Severe Treatment-emergent Adverse Events (TEAEs) — 1; 0; 1 Participants
Diamond-Blackfan Anemia · Kostmann's Neutropenia · Shwachman-Diamond Syndrome
Primary: Number of Patients Alive (Survival) at 2 Years — 6 Participants
Alport Syndrome
Primary: Change From Baseline in Estimated Glomerular Filtration Rate (eGFR) After 12 Weeks of Treatment (Phase 2) — 13.37 mL/min/1.73 m^2 — p=<0.0001
Mucopolysaccharidoses
Primary: Carotid Intima-media Thickness, Measured in Millimeters — 0.44; 0.52; 0.56 mm
Pitt Hopkins Syndrome
Primary: Daily Stool Record (DSR( — -2.3; 0 days
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Fabry Disease
Primary: Number of Participants Experiencing a Clinically Significant Renal, Cardiac or Cerebrovascular Event and/or Death in Fabrazyme (Agalsidase Beta) Patients as Compared to…
Hemophagocytic Lymphohistiocytosis · Chronic Active Epstein-Barr Virus Infection · Chronic Granulomatous Disease
Primary: Percentage of Participants With Overall Survival (OS) — 80.4; 66.7 percentage of 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
Bile Acid Synthesis Defect · Inborn Error of Bile Acid Metabolism · Inborn Error of Bile Acid Conjugation
Primary: Conjugated Cholic Acid (GCA) for the Treatment of Inborn Errors in Bile Acid Synthesis Involving Side-chain Conjugation. — 5 Participants
Very Long-chain Acyl-CoA Dehydrogenase Deficiency · Trifunctional Protein Deficiency · Long-chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Primary: Glucose Disposal Rate (Rd)- the Rate of Glucose Infusion to Maintain Euglycemia During Steady State Insulin Infusion in mg/Min — 709; 429; 842; 497 mg/min — p=0.136
Fabry Disease
Primary: Skin Globotriaosylceramide (GL-3) Clearance From Superficial Skin Capillary Endothelium — 18.8; 33.3; 75; 80 Percentage of participants
Sickle Cell Anemia · Severe Aplastic Anemia · Paroxysmal Nocturnal Hemoglobinuria (PNH)
Primary: Number of Patients With Neutrophil Engraftment — 2 participants
Obese · Insulin Resistance · Metabolic Syndrome
Primary: Circulating LPS — 2.44; 1.86; 13.66; 10.00 EU/mL — p=>0.05
Smith-Lemli-Opitz Syndrome
Primary: Hyperactivity Sub-scale of the Aberrant Behavior Checklist-Community (ABC-C). — 8.6; 8.6 units on a scale — p=1.0