Blood Outgrowth Endothelial Cells (BOECs) and Megakaryocytes (MKs) for in vitro studies of hemostatic and secretory functio
- Conditions
- Bleeding disorders
- Registration Number
- NL-OMON24571
- Lead Sponsor
- Erasmus MC
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 300
Patients
???? Prior diagnosis of VWD, low VWF, inherited platelet function defects, bleeding of unknown
cause or genetic disorders in which dysfunction of the secretory pathway has been
implicated in disease pathogenesis.
???? For patients =16 years old; written informed consent
???? For patients 12-15 years old; written informed consent from both the patient and their
parent(s)/legal guardian(s)
???? For patients <12 years old; written informed consent from their parent(s)/legal guardian(s)
Family members
???? Age 18 years or older
???? Family member of a patient with VWD, low VWF, inherited platelet function defects,
bleeding of unknown cause or genetic disorders in which dysfunction of the secretory
pathway has been implicated in disease pathogenesis.
???? Family members may or may not be affected.
Healthy controls
???? Age 18 years or older
???? Not previously diagnosed with VWD, low VWF, inherited platelet function defects, bleeding
of unknown cause or genetic disorders in which dysfunction of the secretory pathway has
been implicated in disease pathogenesis.
A potential subject who meets any of the following criteria will be excluded from participation
in this study:
???? Unable to give written informed consent.
???? Use of medication that can compromise platelet function or hemostasis.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method 1. To establish optimized approaches for the isolation and characterization of BOECs, CD34+-<br>derived MKs, iPSC- ECs and iPSC-MKs.<br>2. Dissect the cellular mechanisms that control endothelial and platelet (secretory) function,<br>thereby understanding the pathophysiology of bleeding disorders and the genetic control of<br>VWF secretion using BOECs, platelets, CD34+-derived MKs, iPSC- ECs and iPSC-MKs.<br>3. To develop in vitro methods to introduce or correct (disease-causing) mutations in regulators<br>of endothelial or platelet function in BOECs or iPSC-derived ECs/MK using CRISPR-mediated<br>genome engineering.
- Secondary Outcome Measures
Name Time Method The study is a basic science, experimental in vitro study that requires the sampling of venous peripheral blood of the participants.