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.
ID
Bron
Verkorte titel
Aandoening
Platelet function disorders
Trombocytopathie
Ondersteuning
Onderzoeksproduct en/of interventie
Uitkomstmaten
Primaire uitkomstmaten
- Frequency and severity of bleeding symptoms: bleeding score using the ISTH-BAT <br>
- Treatment of bleeding diathesis: type and frequency of treatment received in the past (local treatment, antifibrinolytics, DDAVP, platelet transfusion) <br>
- Impact of PFD on quality of life: RAND-36 health survey score
Achtergrond van het onderzoek
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.
Doel van het onderzoek
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.
Onderzoeksopzet
None
Onderzoeksproduct en/of interventie
None
Publiek
Maaike Blaauwgeers
Postbus 85500
Utrecht 3508 GA
The Netherlands
m.w.blaauwgeers@umcutrecht.nl
Wetenschappelijk
Maaike Blaauwgeers
Postbus 85500
Utrecht 3508 GA
The Netherlands
m.w.blaauwgeers@umcutrecht.nl
Belangrijkste voorwaarden om deel te mogen nemen (Inclusiecriteria)
- Age > 18 years
- History of bleeding diathesis suspected for a PFD
Belangrijkste redenen om niet deel te kunnen nemen (Exclusiecriteria)
- 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
Opzet
Deelname
Opgevolgd door onderstaande (mogelijk meer actuele) registratie
Geen registraties gevonden.
Andere (mogelijk minder actuele) registraties in dit register
Geen registraties gevonden.
In overige registers
| Register | ID |
|---|---|
| NTR-new | NL5878 |
| NTR-old | NTR6051 |
| Ander register | NL53207.041.15 : 15-597 |