Platelet Disorder
Conditions
Brief summary
Inherited platelet disorders (IPD) are a heterogeneous group of rare bleeding diseases associated with a reduction of platelet number and/or function and with a bleeding tendency ranging from mild to severe. The frequency of inherited thrombocytopenias has been estimated to be 2.7/100,000 while the prevalence of inherited platelet function disorders is unknown, partly because they are frequently overlooked due to their difficult diagnosis.
Detailed description
This a no-profit national multicenter ambispectic (retrospective and prospective) observational study. After collection of informed consent form each patient, each center will enroll the patient and will collect general, laboratory and clinical data on an electronic CRF on a REDCAP platform. Each patient will receive a unique identification number. All clinical events will be reported in the data base.
Interventions
None listed
Sponsors
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* All patients with established diagnosis of inherited number or function platelet disorder (IPN and IPD, respectively), on the basis of internationally established clinical, laboratory and genetic criteria will be enrolled. * For patients \<18 ys, consensus will be signed by parents or legal responsible
Exclusion criteria
* No written consent * Undocumented or uncertain diagnosis
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| congenital platelet diseases | 48 months | The main objectives of the study are to collect information on the diagnosis and management of these rare disorders and to create clinical and scientific collaborations between participating centres, and the aim of this project is to create for the first time an ambiseptic multicentre database on clinical and laboratory data on patients with congenital platelet disorders and to observe the prevalence of different congenital platelet disorders |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| QoL | 48 months | description of different symptoms and therapeutical options and evaluation of health-related quality of life through validated questionnaires that record the patient's self-assessment of health on a vertical visual analogue scale in which the endpoints are labelled 'best imaginable health' and 'worst imaginable health' |
Countries
Italy
Outcome results
None listed