Bleeding disorders
Conditions
Interventions
The intervention in this study is venous blood sampling. A maximum of seventy milliliters of blood will be drawn for the isolation of PBMCs,
platelets, plasma and DNA.
Sponsors
Erasmus MC
Eligibility
Inclusion criteria
Inclusion criteria: 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.
Exclusion criteria
Exclusion criteria: 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.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 1. To establish optimized approaches for the isolation and characterization of BOECs, CD34+- derived MKs, iPSC- ECs and iPSC-MKs. 2. Dissect the cellular mechanisms that control endothelial and platelet (secretory) function, thereby understanding the pathophysiology of bleeding disorders and the genetic control of VWF secretion using BOECs, platelets, CD34+-derived MKs, iPSC- ECs and iPSC-MKs. 3. To develop in vitro methods to introduce or correct (disease-causing) mutations in regulators of endothelial or platelet function in BOECs or iPSC-derived ECs/MK using CRISPR-mediated genome engineering. | — |
Secondary
| Measure | Time frame |
|---|---|
| The study is a basic science, experimental in vitro study that requires the sampling of venous peripheral blood of the participants. | — |
Contacts
Public ContactIris van Moort
Erasmus University Medical Center
Outcome results
None listed