No registrations found.
ID
Source
Brief title
Health condition
Platelet function disorders
Trombocytopathie
Sponsors and support
Intervention
Outcome measures
Primary outcome
- Frequency and severity of bleeding symptoms: bleeding score using the ISTH-BAT
- Treatment of bleeding diathesis: type and frequency of treatment received in the past (local treatment, antifibrinolytics, DDAVP, platelet transfusion)
- Impact of PFD on quality of life: RAND-36 health survey score
Secondary outcome
- Diagnostic utility of additional platelet tests as compared to standard LTA
- Relation between type of PFD and bleeding phenotype
- Genotype-phenotype relationship
Background summary
A nationwide cross-sectional study of patients above 18 years of age with a (suspected) PFD will be performed. Frequency and severity of bleeding symptoms will be assessed using the ISTH bleeding assessment tool (BAT). Patients will complete a questionnaire on treatment history, social activities and quality of life, including items of the RAND-36 health survey. Blood will be drawn to perform routine laboratory testing for platelet function and additional tests, including the flow cytometry based Platelet ACtivation Test (PACT), MYH9 immunofluorescence analysis, mepacrine response, perfusion analysis, mass spectrometry and whole-exome sequencing (WES). Plasma will be stored in the biobank for additional testing in the future. This study combines clinical burden, functional assays, WES and mass spectrometry, generating a unique platform to better understand PFD’s and to improve patient care.
Study objective
Observational study to register and investigate patients in the Netherlands with a (suspected) PFD, to assess clinical presentation, bleeding score, burden of disease and quality of life.
Study design
None
Intervention
None
Maaike Blaauwgeers
Postbus 85500
Utrecht 3508 GA
The Netherlands
m.w.blaauwgeers@umcutrecht.nl
Maaike Blaauwgeers
Postbus 85500
Utrecht 3508 GA
The Netherlands
m.w.blaauwgeers@umcutrecht.nl
Inclusion criteria
- Age > 18 years
- History of bleeding diathesis suspected for a PFD
Exclusion criteria
- Inability to give informed consent
- Bleeding diathesis due to an acquired PFD, von Willebrand disease, hemophilia or other disorders of secondary hemostasis or fibrinolysis
- Current use of antiplatelet therapy
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| NTR-new | NL5878 |
| NTR-old | NTR6051 |
| Other | NL53207.041.15 : 15-597 |