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Blood Outgrowth Endothelial Cells (BOECs) to study the pathophysiology of von Willebrand disease and the feasibility of in vitro correction of von Willebrand factor defects

Completed
Conditions
Von Willebrand Disease
10064477
10005330
Registration Number
NL-OMON47740
Lead Sponsor
eids Universitair Medisch Centrum
Brief Summary

Trial is onging in other countries

Detailed Description

Not available

Recruitment & Eligibility

Status
Completed
Sex
Not specified
Target Recruitment
80
Inclusion Criteria

Patients with von Willebrand disease (any subtype), age 18 years or older.
Family members of patients with von Willebrand disease (may or may not be
affected themselves), age 18 years or older.
Healthy control (not known with von Willebrand disease or other hemostatic
disorders), age 18 years or older.

Exclusion Criteria

< 18 years of age
Unable to visit the LUMC or Erasmus MC
Unable to give written informed consent

Study & Design

Study Type
Observational invasive
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
<p>As this study is a basic science, experimental in vitro, non-therapeutic study,<br /><br>there are no efficacy parameters.<br /><br>However the outcome of the study will be: optimized isolation and<br /><br>characterization procedures of BOECs, iPSC-ECs, and iPSC-MKs; identification of<br /><br>new pathophysiologic mechanisms of VWD; establishment of the feasibility of<br /><br>silencing of dominant-negative mutant VWF alleles using RNA-targeted silencing<br /><br>or CRISPR/Cas9-editing in BOECs and iPSC-ECs.</p><br>
Secondary Outcome Measures
NameTimeMethod
<p>Not applicable</p><br>
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