Exploring bleeding risk and platelet function combined with multiple omics techniques in 22q11.2 deletion syndrome
- Conditions
- DiGeorge syndromeVelocardiofacial syndrome100355341008362410039628
- Registration Number
- NL-OMON55192
- Lead Sponsor
- Medisch Universitair Ziekenhuis Maastricht
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- Recruiting
- Sex
- Not specified
- Target Recruitment
- 60
- 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.
- 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
- Observational invasive
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method <p>- Bleeding risk score (ISTH-BAT questionnaire).<br /><br>- Complete blood count (including platelet count) and MPV.<br /><br>- Platelet aggregation and (functional) flowcytometry.<br /><br>- Flow chamber results with respect to platelet binding to coated surfaces (in<br /><br>bright field view), P-selectin expression, fibrinogen binding and phosphatidyl<br /><br>serine (PS) exposure.<br /><br>- Global scale quantitative and qualitative RNA differences (transcriptomics).<br /><br>- Global scale quantitative metabolite differences (metabolomics).</p><br>
- Secondary Outcome Measures
Name Time Method <p>- correlation between blood platelet function and age</p><br>