22q11.2 deletion syndrome, schizophrenia, thrombocytopenia
Conditions
Interventions
Blood drawl and ISTH-BAT questionnaire
Sponsors
None
Eligibility
Inclusion criteria
Inclusion criteria: In order to be eligible to participate in this study, a subject must meet all of the following criteria: - 16 years or older. - signed informed consent. Adults with 22q11.2DS - molecularly confirmed 22q11.2 deletion syndrome. - Mentally competent (ability to give informed consent) and aged 16 years and older or, in case the individual is mentally incompetent aged 16 years and older, consent will be given by the legally authorized representative of the subject.
Exclusion criteria
Exclusion criteria: - The presence of any malignancy. - Use of antiplatelet or anticoagulant drugs within the last two weeks prior to the study. - Use of anti-inflammatory drugs within the last two weeks prior to the study. - Medical history of auto-immune thrombocytopenia Specific for healthy controls: - A medical history of thrombocytopenia (<150.000 platelets per mL). - Increased bleeding risk, defined as a diagnosed bleeding disorder. - Metabolic disorder.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| -Bleeding risk score (ISTH-BAT questionnaire). -Complete blood count. -Platelet aggregation and (functional) flowcytometry. -Flow chamber results with respect to platelet binding to coated surfaces (in bright field view), P-selectin expression, fibrinogen binding and phosphatidyl serine (PS) exposure. -Global scale quantitative and qualitative RNA differences (transcriptomics). -Global scale quantitative metabolite differences (metabolomics). | — |
Secondary
| Measure | Time frame |
|---|---|
| Correlation between age and platelet function and platelet count. | — |
Contacts
Public ContactEmma von Scheibler
Maastricht University and 's Heeren Loo
Outcome results
None listed