30 closest matches · ranked by relevance
Congenital Heart Disease
Primary: To Evaluate the Incidence of the Pre-proendothelin SNP at Nucleotide 5665 — 10 participants
Familial Hyperlipidemia
Primary: Familial Hypercholesterolemia (FH) Determination for Family Members of School Children With Elevated Cholesterol and Documented FH Variant — 3; 8 participants
Peroxisome Biogenesis Disorders
Primary: Peroxisome Biochemical Functions as Measured by Plasma Very Long Chain Fatty Acid — 0.180; 0.188 ratio
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
Respiratory Distress Syndrome, Newborn
Primary: Mortality — 5; 3; 5 Participants
Attention Deficit Disorder With Hyperactivity
Primary: Change From Baseline in Attention Deficit Hyperactivity Disorder Rating Scale, Version 5 (ADHD-RS-5) Total Score — -14.2; -12.1 units on a scale
Congenital Sucrase-isomaltase Deficiency (CSID)
Primary: Prevalence of CSID Genetic Variants — 27; 0 Participants
Schizophrenia
Primary: Genetic Linkage — 5.2 log (odds ratio) — p=<0.001
Homozygous Familial Hypercholesterolemia
Primary: Number of LDLR Gene Mutations — 7 gene mutations
Severe Familial Hypercholesterolemia
Primary: Number of Participants With Adverse Events — 94; 174; 76; 143 Participants
Aplastic Anemia
Primary: Number of Patients Having Attenuation of Accelerated Telomere Attrition — 12 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
Diabetes Mellitus
Primary: Weight — 103.8; 100.7 kg — p=0.44
Fetal Structural Anomalies
Primary: Number of Participants Who Had Reportable Variants — 114; 22 Participants
Autism
Primary: Percent Change of ABC - Irritability Subscale Score — -44.5 percent change in scores
Hypertension · Chronic Kidney Disease · Genomics
Primary: Number of Participants With Urine Protein Excretion — 33; 278; 39; 50 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)
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
Sickle Cell Trait
Primary: Acceptability — 11; 8; 11; 8 Participants
Fabry Disease
Primary: Globotriaosylceramide (GL-3) Clearance in Capillary Endothelium in the Skin — 2; 14; 5; 0 patients
Chronic Kidney Disease · Hypertension
Primary: Change in Systolic Blood Pressure From Baseline to 3 Months for APOL1 Positive Participants. — -1.8; -1.5 mmHg — p=0.7769
Urea Cycle Disorders
Primary: Mortality — 18.4; 20.7 participant per 1000 person-years
Atopic Dermatitis · Ichthyosis Vulgaris
Primary: Heterozygous for Filaggrin (FLG) Null Mutations — 1; 4 participants
Tobacco Use Disorder · Smoking Cessation · Tobacco Use Cessation
Primary: Change in Use of Smoking Cessation Pharmacotherapy in Past 30 Days — 11; 9; 9; 2 Participants
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
Genetic Disorders
Primary: Number of Patients That Receive Carrier Testing and Have Results to Return — 9; 155 Participants
Congenital Pediatric Disorders
Primary: Overall Survival at 100 Days After Umbilical Cord Blood Transplant in Pediatric Patients. — 0.947 probability of overall survival
Parkinson Disease
Primary: Genetics Knowledge — 16; 17; 17; 16 score on a scale
Chronic Kidney Disease · Hypertension
Primary: Change in Systolic Blood Pressure From Baseline to 3 Months for APOL1 Negative Participants — -3.7; -3.1 mmHg — p=0.4852
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