Isolation and Characterization of Endothelial Colony Forming Cells (ECFCs) in Patients Diagnosed With Von Willebrand Disease, Acquired Von Willebrand Syndrome and Healthy Subjects

What this Trial Is About

Researchers are investigating how endothelial colony-forming cells (ECFCs) function in people with von Willebrand disease (VWD), acquired von Willebrand syndrome (AVWS), and healthy individuals. The study aims to create a reference group of ECFCs from healthy volunteers and compare them with ECFCs from patients to understand cellular and molecular changes related to VWF defects. Clinical and biochemical data will be used to clarify the underlying disease mechanisms. Participants include patients with VWD or AVWS and healthy volunteers without bleeding or thrombotic conditions. Blood samples will be collected for plasma VWF measurements, ECFC isolation, and characterization. Patients without previous genetic testing will provide additional samples for VWF gene sequencing. Various laboratory assays will assess VWF levels, ECFC characteristics, and molecular markers. A subgroup of patients with type 2A VWD will undergo specialized testing involving allele-specific siRNA silencing. During the study, participants will have blood drawn for plasma and cellular analyses. ECFCs will be isolated and studied using flow cytometry, microscopy, RNA analysis, and functional assays. Data will be analyzed for correlations between ECFC properties and clinical markers. The primary outcome is ECFC isolation and characterization within 42 weeks from enrollment. Secondary outcomes include angiogenic properties comparison and gene silencing effects. The study is observational and involves no drug treatments, with participation lasting up to 42 weeks.

Endothelial Colony-Forming Cells in Patients With VWD, AVWS and Healthy Subjects