Primary objective: to register and investigate Dutch patients suspect for an inherited platelet function disorder, to assess clinical presentation, bleeding score, treatment, burden of disease and quality of life. Secondary objectives: to…
ID
Source
Brief title
Condition
- Platelet disorders
- Blood and lymphatic system disorders congenital
Synonym
Research involving
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, using age specific questionnaires.
Bruising pattern in children with PFD and VWD type 1 and 2
Secondary outcome
To investigate if diagnostic approaches can be improved and optimized using
tests additional to the standard available diagnostic tests available.
To search for a possible relationship between type of PFD and bleeding
phenotype.
To study phenotype-genotype relationships
To study occurrence and genotype-phenotype relationships within families
To gain more insight in pathophysiology of proven PFD*s
To validate a new disease-specific quality of life quiestionnaire
Background summary
Inherited platelet function disorders (PFD) are rare bleeding disorders caused
by genetic defects, resulting in dysfunction of adhesion, activation or
aggregation of platelets. This group of disorders is heterogeneous in severity,
mechanisms and frequency. In the Netherlands little is known about prevalence,
clinical aspects, burden of disease and quality of life of patients with these
disorders. An understanding of the impact of the disease, bleeding phenotype of
the various kinds of PFD in the different age groups and improved diagnostics
would help enormously in the early diagnosis, management and counseling of
families with PFD and prevention of major bleedings.
Study objective
Primary objective: to register and investigate Dutch patients suspect for an
inherited platelet function disorder, to assess clinical presentation, bleeding
score, treatment, burden of disease and quality of life.
Secondary objectives: to investigate if diagnostic approaches can be improved
and optimized using tests additional to the standard diagnostic tests. To
search for a possible relationship between type of PFD and bleeding phenotype
and to study genotype-phenotype relationships. To validate quality of life
questionnaires in patients with PFDs.
Study design
Adults: Cross-sectional monocenter cohort study coordinated at the Van
Creveldkliniek of the University Medical Center Utrecht.
Children: Corss-sectional mulitcenter study coordinated at the Van
Creveldkliniek of the University Medical Center Utrecht in collaboration with
the Erasmus Medical Center/Sophie Children's Hospital in Rotterdam and the
Amsterdam University Medical Centre/Emma Children's Hospital Amsterdam.
Study burden and risks
This study will be the first to asses clinical presentation, quality of life
and diagnostic approaches of patients with inherited PFDs in the Netherlands.
The participating patients may benefit directly from participation as the use
of new tests in this study may lead to diagnosing patients who were previously
undiagnosed, resulting in better understanding and treatment options. The study
consists of a questionnaire and the drawing of extra blood to perform
additional tests. Risks imposed by participation are considered negligible.
Heidelberglaan 100
Utrecht 3584 CX
NL
Heidelberglaan 100
Utrecht 3584 CX
NL
Listed location countries
Age
Inclusion criteria
(Suspected) PFD defined according to the following criteria:
• Congenital or familial thrombocytopenia
• Chronic thrombocytopenia (>1 year) without proven or suspected acquired cause
• PFD with proven molecular diagnosis.
• Abnormal LTA for at least one of the agonists and/or abnormal ATP/ADP ratio
(storage pool test)
• History of bleeding diathesis very suspect of a primary hemostasis function
defect with or without prolonged Platelet Function Analyser closure time.
Inclusion criteria of control group of VWD patients for bruising pattern
Patients younger than 18 years old with Von Willebrand*s disease type 1 or type
2 that visit the VCK regularly.
Exclusion criteria
- Inability to give informed consent or inability of the parents to give
informed consent in patients < 16 years of age.
- Bleeding diathesis due to an acquired PFD
- Bleeding diathesis due to moderate or severe von Willebrand disease (VWF
risto < 30%)
- Bleeding diathesis due to hemophilia or other disorders of secondary
hemostasis or fibrinolysis
- Current use of antiplatelet therapy
Design
Recruitment
Medical products/devices used
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 |
|---|---|
| CCMO | NL53207.041.15 |