Endothelial colony-forming cell behavior in people with von Willebrand disease and acquired von Willebrand syndrome

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

This project will see how endothelial colony-forming cells (ECFCs) behave in people with VWD or AVWS compared with healthy volunteers.

Quick facts

• Study type: Observational
• Enrollment: 48 (estimated)
• Ages: 16 Years and up
• Sex: All
• Sponsor: Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico (Academic / other)
• Locations: 1 site (Milan)
• Trial ID: NCT07358013 on ClinicalTrials.gov

What this trial studies

Researchers will collect blood from patients with congenital or acquired von Willebrand disease and from matched healthy volunteers at a single center in Milan to isolate ECFCs and plasma. ECFCs will be cultured and characterized ex vivo while plasma samples are used for VWF measurements and genetic testing when needed. Patient-derived cellular and molecular findings will be compared with the healthy reference population and correlated with clinical and biochemical data. The protocol also includes a dedicated sub-study for one patient with type 2A VWD involving allele-specific siRNA silencing of the mutant allele.

Who should consider this trial

Good fit: Ideal candidates are people aged 16 or older with a prior diagnosis of congenital or acquired von Willebrand disease or acquired von Willebrand syndrome who can give informed consent and provide a blood sample.

Not a fit: People without VWD/AVWS, those unable to give informed consent or blood samples, or those unable to travel to the study center are unlikely to receive direct benefit from participation.

Why it matters

Potential benefit: If successful, this work could clarify cellular mechanisms behind VWD/AVWS and point to biomarkers or targets for future diagnostics or therapies.

How similar studies have performed: Some laboratory studies have used ECFCs to study VWF biology, but directly comparing patient-derived ECFCs to a healthy reference group to define VWD/AVWS mechanisms is relatively novel.

Eligibility criteria

Inclusion Criteria 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.

Exclusion criteria for both patients and healthy volunteers:

* Pregnancy.
* Anemia, as determined at screening or based on medical history.

Where this trial is running

Milan

• Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, A.B.Bonomi Hemophilia and Thrombosis Center — Milan, Italy (Recruiting)

Study contacts

• Study coordinator: Flora Peyvandi, MD, PhD

Conditions Von Willebrand Disease; Acquired Von Willebrand Disease; von Willebrand disease; von Willebrand factor; ex vivo; endothelial colony forming cells