Isolation and Characterization of Endothelial Colony Forming Cells (ECFCs) in Patients Diagnosed With Von Willebrand Disease, Acquired Von Willebrand Syndrome and Healthy Subjects
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 48
研究概览
简要总结
The goal of this observational study is to learn how endothelial colony-forming cells (ECFCs) behave in people with von Willebrand disease (VWD), acquired von Willebrand syndrome (AVWS), and in healthy individuals.
详细描述
The study aims to establish a reference population of endothelial colony-forming cells (ECFCs) from healthy subjects and compare them with ECFCs derived from patients with VWD/AVWS.
This comparison will help identify cellular and molecular alterations underlying qualitative and quantitative VWF defects. Findings will be correlated with clinical and biochemical data to clarify disease mechanisms.
Study Design: This is a national, monocentric, non-pharmacological study promoted by Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and coordinated by SC Medicina - Emostasi e Trombosi.
Enrollment: Patients with a prior diagnosis of VWD or AVWS referred to the Angelo Bianchi Bonomi Hemophilia and Thrombosis Center will be contacted for scheduled enrollment. Historical clinical, biochemical, and molecular data will be reviewed, informed consent obtained, and a study-specific blood sample collected to confirm VWF levels and isolate ECFCs.
Healthy volunteers with no history of bleeding or thrombotic disorders will be enrolled in a number equal to that of the patient group. After a brief health interview and informed consent, they will undergo the same blood collection procedures as patients.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 16 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •for patients:
- •Patients with von Willebrand disease (VWD) or acquired von Willebrand syndrome (AVWS)
- •Age ≥ 16 years.
- •Previous diagnosis of von Willebrand disease or acquired von Willebrand syndrome, defined as one of the following:
- •Group A - Type 1 VWD:
- •VWF levels ≤ 30 IU/dL, regardless of bleeding history, or
- •VWF levels ≤ 0.50 IU/mL in the presence of abnormal bleeding.
- •Group B - Congenital or acquired VWD (VWD or AVWS):
- •Diagnosis of congenital or acquired VWD, with or without gastrointestinal bleeding.
- •Group C - Subgroup study (Type 2A VWD):
- •One patient with type 2A VWD selected for a dedicated sub-study involving allele-specific siRNA silencing of the mutant allele.
- •Ability and willingness to provide written informed consent.
- •For patients without prior molecular characterization: willingness to undergo VWF gene sequencing and to sign the related informed consent.
- •Inclusion criteria for healthy volunteers
- •No prior diagnosis of VWD, bleeding disorders, or thrombotic disorders.
- •Willingness to donate blood for study procedures.
- •Ability and willingness to provide written informed consent.
- •Age ≥ 18 years.
排除标准
- •for both patients and healthy volunteers:
- •Pregnancy.
- •Anemia, as determined at screening or based on medical history.