European registry on inherited platelet disorders (IPD) project update, February 2025

A project update from Prof Paolo Gresele 

The CRF harmonization phase has been completed successfully and we are now in the process of finalizing and launching the registry platform. 

The project aimed to establish the first European registry of 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 were able to gather an international consortium of seven academic centers that agreed to participate in this research effort. These centers are in Italy, Spain, Lithuania, Germany, France, and Denmark. 

To accomplish the planned results: 

  • We established a network of investigators from multiple 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 participating investigators 
  • Test it by asking each participating investigator to introduce two of their IPD patients in the electronic database 

  Future plans 

A video tutorial of the ERIPD in English is being recorded that will support the use of the platform. 

The entire consortium will meet again 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 to do so 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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