30 closest matches · ranked by relevance
Congenital Heart Disease
Primary: To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665 — 10 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
Hypertension · Chronic Kidney Disease · Genomics
Primary: Number of Participants With Urine Protein Excretion — 33; 278; 39; 50 Participants
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Gaucher Disease, Type 1
Primary: Mean Change From Baseline to Month 9 in Hemoglobin (Hgb) Concentration for Each Treatment Group. — 1.624; 1.488 gram per deciliter (g/dl)
Parkinson Disease
Primary: Genetics Knowledge — 16; 17; 17; 16 score on a scale
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 participants
Gaucher Disease
Primary: Spleen Volume — 2324.0; 2120.0; 778.0; 1707.7 mL
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
Homozygous Familial Hypercholesterolemia
Primary: Number of LDLR Gene Mutations — 7 gene mutations
Diabetes Mellitus
Primary: Weight — 103.8; 100.7 kg — p=0.44
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Fetal Structural Anomalies
Primary: Number of Participants Who Had Reportable Variants — 114; 22 Participants
Gastroesophageal Reflux
Primary: Count of Patients Agreeing to Volunteer for the Study — 28 Participants
Atopic Dermatitis · Ichthyosis Vulgaris
Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants
Gaucher Disease
Primary: Change From Baseline in Spleen Volume Measured by MRI. — -26.91; -38.01 percentage of change — p=<0.0001
Schizophrenia
Primary: Genetic Linkage — 5.2 log (odds ratio) — p=<0.001
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
Chronic Granulomatous Disease
Primary: Percentage of Participants With Engraftment — 100 percentage of participants
Adrenoleukodystrophy · Metachromatic Leukodystrophy · Globoid Cell Leukodystrophy
Primary: Number of Patients With Donor Cell Engraftment — 26 Participants
Cardiovascular Disease
Primary: 12-Month Change in LDL Cholesterol — -1.1; -2.2 mg/dL
Coronary Heart Disease, Susceptibility to, 5 · Prediabetic State
Primary: Dietary Intake as Measured by Percent Energy From Fat — 33.75; 34.9; 33.72; 35.05 percent energy from fat — p=0.1073
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…
Hypercholesterolemia · Hydroxy-methylglutaryl-coenzyme A (HMG Co-A) Reductase Inhibitors Adverse Reaction
Primary: Morisky Medication Adherence Scale (MMAS) Score — 6.8; 6.9; 6.8; 7.1 units on a scale — p=0.96
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
Healthy
Primary: Peak Number of Alcohol Drinks Consumed in a Day — 3.7; 4.2; 3.4; 3.0 drinks — p=.81
Death, Sudden, Cardiac · Ventricular Fibrillation · Tachycardia
Primary: Number of Patients With Ventricular Arrhythmia <400 Msec. by GNAS c.393C>T Genotype — 63; 136; 98 participants with VT < 400 msec
Gaucher Disease, Type 1 · Cerebroside Lipidosis Syndrome · Glucocerebrosidase Deficiency Disease
Primary: Percentage of Participants Demonstrating A Meaningful Clinical Response — 77 percentage of participants
Other Conditions That May Be A Focus of Clinical Attention
Primary: Renal Clearance of Metformin — 614; 441 mL/min