RecruitingNCT07358013

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

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


Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Enrollment

48 participants

Start Date

Nov 11, 2023

Study Type

OBSERVATIONAL

Conditions

Summary

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.


Eligibility

Min Age: 16 Years

Inclusion Criteria16

  • 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.
  • 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 Criteria2

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

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Interventions

DIAGNOSTIC_TESTBlood sample collection for VWF measurements in plasma

Plasma samples will be collected for the measurement of VWF levels.

OTHERBlood sample collection for ECFC isolation and characterization

Blood samples will be collected to isolate ECFCs and perform their subsequent characterization.

OTHERGenetic testing of VWF

An additional blood sample will be collected for VWF genetic testing in patients with VWD without prior molecular characterization.


Locations(1)

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, A.B.Bonomi Hemophilia and Thrombosis Center

Milan, Italy

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NCT07358013


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