inherited platelet function disorders hemostatic defects
Conditions
Interventions
None listed
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following 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
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 |
|---|---|
| A maximum of seventy milliliters of blood will be drawn for the isolation of PBMCs, platelets, plasma and DNA. Several parameters will be measured in plasma to characterize the hemostatic and angiogenic profile. BOECs, iPSC-ECs/MKs and CD34+-derived primary MKs will be characterized in vitro. Protein expression profiles will be determined by whole proteome mass spectrometry. DNA will be genotyped for SNPs and mutations in VWF and VWF associated genes. | — |
Countries
Netherlands