Clinical Research Directory

Investigation of the Genetics of Hematologic Diseases

The purpose of this study is to collect and store samples and health information for current and future research to learn more about the causes and treatment of blood diseases. This is not a therapeutic or diagnostic protocol for clinical purposes. Blood, bone marrow, hair follicles, nail clippings, urine, saliva and buccal swabs, left over tissue, as well as health information will be used to study and learn about blood diseases by using genetic and/or genomic research. In general, genetic research studies specific genes of an individual; genomic research studies the complete genetic makeup of an individual. It is not known why many people have blood diseases, because not all genes causing these diseases have been found. It is also not known why some people with the same disease are sicker than others, but this may be related to their genes. By studying the genomes in individuals with blood diseases and their family members, the investigators hope to learn more about how diseases develop and respond to treatment which may provide new and better ways to diagnose and treat blood diseases. Primary Objective: * Establish a repository of DNA and cryopreserved blood cells with linked clinical information from individuals with non-malignant blood diseases and biologically-related family members, in conjunction with the existing St. Jude biorepository, to conduct genomic and functional studies to facilitate secondary objectives. Secondary Objectives: * Utilize next generation genomic sequencing technologies to Identify novel genetic alternations that associate with disease status in individuals with unexplained non-malignant blood diseases. * Use genomic approaches to identify modifier genes in individuals with defined monogenic non-malignant blood diseases. * Use genomic approaches to identify genetic variants associated with treatment outcomes and toxicities for individuals with non-malignant blood disease. * Use single cell genomics, transcriptomics, proteomics and metabolomics to investigate biomarkers for disease progression, sickle cell disease (SCD) pain events and the long-term cellular and molecular effects of hydroxyurea therapy. * Using longitudinal assessment of clinical and genetic, study the long-term outcomes and evolving genetic changes in non-malignant blood diseases. Exploratory Objectives * Determine whether analysis of select patient-derived bone marrow hematopoietic progenitor/stem (HSPC) cells or induced pluripotent stem (iPS) cells can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms. * Determine whether analysis of circulating mature blood cells and their progenitors from selected patients with suspected or proven genetic hematological disorders can recapitulate genotype-phenotype relationships and provide insight into disease mechanisms.

Comparative Study of Tranexamic Acid Dosing in Cardiac Surgery

Tranexamic axid is routinely used as an antifibrinolytic agent in cardiac surgery to reduce the risk of blood loss and transfusion. However, there is no consensus regarding the dosage regimen of tranexamic acid that should be administered. The purpose of this study is to compare different dosages of tranexamic acid in cardiac surgery using cardiopulmonary bypass regarding the duration of inhibition of fibrinolysis as measured by the ClotPro test. Blood samples will be taken from the arterial line placed in the patient at specified time points in order to perform viscoelastic tests (ClotPro, TPA test), to detect successful inhibition of fibrinolysis and to measure tranexamic acid levels in the patient's blood. In case the action of tranexamic acid stops early postoperatively an additional dose of the medication will be administered to the patient.

Transfusion Surveillance in Anaesthesia

the aim of this register is to collect exhaustively the different data available surrounding a transfusion act in the context of an active haemorrhage. The aim is to allow different modelling and analysis related to emergency transfusion.

Dynamics of Platelet Activation in Patients With Ventricular Assist Device (VAD)

Consenting patients with end-stage heart failure that are implanted with/candidates for implant of a short-term/durable mechanical circulatory support device (e.g.: percutaneous microaxial pumps (Impella), extracorporeal membrane oxygenator (ECMO), Ventricular Assist Device (VAD) will be enrolled in the study. Aim of the study is to evaluate the patients' haemostatic and coagulation profile, how it interacts with the support device as well as the effect of antithrombotic drugs. From these data, it will be possible to derive the mechanisms triggering post-implant thromboembolic/hemorrhagic complications and to identify potential therapeutic targets.

Evaluation of Clinical Ranges of Whole Blood Clotting Times of Patients on Anticoagulants

Whole blood clotting time measurements are to collect the clotting time ranges for DOAC-anticoagulated patients and assess their correlation with plasma drug levels (via anti-FXa assay).