European registry on inherited platelet disorders project, February 2025
A project update from Prof Paolo Gresele.
We successfully completed the CRF harmonization phase and are now in the process of finalizing and launching the registry platform.
The project aimed to establish the first European registry of inherited platelet disorders (IPD). IPD are a heterogeneous group of rare bleeding diseases associated with a:
- Reduction of platelet number and/or function
- Bleeding tendency ranging from mild to severe
Although no conclusive data exist on their prevalence, a recent study showed that the prevalence of loss-of-function variants in platelet-associated genes in the general population was found to be 0.329% (PMID:33006441).
While some national registries for IPD exist in certain European countries, no European registries for all IPD have been established yet. Registries are crucial tools for rare genetic disorders, and a European Registry of IPD (ERIPD) would allow us to get deeper insights into the prevalence, natural history, prognosis, and management of these disorders.
Thanks to the support of the EHA 'SWG-initiated small research projects' grant we received in 2024, we were able to gather an international consortium of seven academic centers who agreed to participate in this research effort. These centers are located across Europe, in Italy, Spain, Lithuania, Germany, France, and Denmark.
In order to accomplish the planned results:
- We established a network of investigators from seven European countries
- We held several meetings with our network to discuss the preparation of a comprehensive patient case report form (CRF) that would be valid throughout Europe
- Angel Esteban, in Murcia, prepared the electronic CRF
- The electronic CRF was tested exploratorily in the Perugia Center by introducing two patients into the electronic database.
- We had a meeting to discuss problems with the CRF and to implement improvements
The next steps are to:
- Circulate the fined-tuned version of the electronic CRF to all the participant investigators
- Test it by asking each particant investigator to introduce two of their IPD patients in the electronic database
Future plans
A video tutorial of the ERIPD in English is now being recorded. This will help with the use of the platform.
The entire consortium will meet again soon to:
- Discuss problems and suggest improvements
- Reach a final, shared version of the electronic CRF
The registry will then be officially launched.
Initially, only the partner centers will recruit patients. Subsequently, we plan to reach most European centers caring for these disorders by:
- Contacting the treating physicians of IPD patients who previously participated in international studies coordinated by Paolo Gresele
- Launching the registry through a call spread by EHA
- Involving patient advocacy organizations (PAOs) through communication actions to patients and healthcare professionals
Budget and cost estimations
Costs for data management and data analysis (informatic and statistical support): €17,000
Publication costs: €3,000
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