Platelet function in 22q11.2 deletion syndrome
- Conditions
- 22q11.2 deletion syndrome, schizophrenia, thrombocytopenia
- Registration Number
- NL-OMON24347
- Lead Sponsor
- one
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Pending
- Sex
- Not specified
- Target Recruitment
- 60
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.
-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.
Study & Design
- Study Type
- Interventional
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method -Bleeding risk score (ISTH-BAT questionnaire).<br>-Complete blood count.<br>-Platelet aggregation and (functional) flowcytometry.<br>-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.<br>-Global scale quantitative and qualitative RNA differences (transcriptomics). <br>-Global scale quantitative metabolite differences (metabolomics).
- Secondary Outcome Measures
Name Time Method Correlation between age and platelet function and platelet count.