bleeding disorder of unknown cause bleeding disorder of unknown cause
Conditions
Interventions
n.a.
Sponsors
Maastricht Universitair Medisch Centrum +
Eligibility
Age
12 Years to 99 Years
Inclusion criteria
Inclusion criteria: A potential subject must meet all of the following criteria to be able to participate in this study: • Age >= 12 years; • Patients referred to a (paediatric) haemostasis specialist for analysis of bleeding tendency; • Increased bleeding tendency based on an abnormal ISTH-BAT score (>= 5 in women age 18-30; >= 6 in women age 31-51, >= 7 in women age 52 or older; >=4 in men and >= 3 in children) or based on clinical gestalt of the investigating physician; • Absence of test results diagnostic for a bleeding disorder in standard laboratory haemostasis tests (see table 2).
Exclusion criteria
Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: - Inability to give informed consent; - Use of medication interfering with laboratory haemostasis test results which cannot be stopped before blood withdrawal (for example anticoagulant or antiplatelet therapy, NSAID's, SSRI's); - Pregnancy or lactation at moment of inclusion; - Presence of a known disorder of hemostasis; - Presence of an acquired cause for the increased bleeding tendency; - Presence of another explanation for the increased bleeding tendency.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| WP 1: Advanced haemostasis testing for undiagnosed bleeding disorders • Number of persons with BDUC diagnosed with a coagulation factor deficiency (FII, FV, FVII, FX deficiency), low VWF, or low FVIII based on activity or protein levels according to the national guideline. • Number of persons with BDUC diagnosed with a fibrinolytic disorder using advanced fibrinolysis tests. • Number of persons with BDUC with an anticoagulant abundance (according to reference values). • Number of persons with other causes of bleeding or endothelial dysfunction (according to reference values). WP 2: Advanced haemostasis testing for platelet function disorders • Number of persons with BDUC diagnosed with a platelet function disorder based on platelet nucleotide assessment or flow cytometry. • Number of persons with BDUC diagnosed with a flow-dependent platelet function disorder based on Flowchamber or TTAS tests. • Identification of qualitative and/or quantitative defects in platelet proteomics. WP 3: Application of Rich Full Blood Count (R-FBC) data • Subgroups of BDUC with abnormalities in platelet parameters. • Subgroups of BDUC with abnormalities in hemoglobin parameters. • Subgroups of BDUC with abnormalities in leukocyte parameters. WP 4: In-vitro proof of effectiveness and safety of targeted therapeutic strategies • Differences in platelet adhesion, activation, activation time, and aggregation; collagen/TF-mediated thrombus formation, fibrin formation, and thrombin generation before and after the addition of tranexamic acid. • Differences in the above parameters before and after the addition of platelets. • Differences in the above parameters before and after the addition of VWF/FVIII product. • Number of patients with a pathophysiology-based treatment plan. WP 5: Multi-OMICS in BDUC • Identification of genetic variants responsible for unexplained bleeding in BDUC patients. • Identification of novel haemostatic modifiers that explain the bleeding phenotype in BDUC. • Pathog | — |
Secondary
| Measure | Time frame |
|---|---|
| see above | — |
Countries
Netherlands
Contacts
Public ContactFCJI Heubel-Moenen
Maastricht Universitair Medisch Centrum +
Outcome results
None listed