Establishment of a European network of rare bleeding disorders

Rare Bleeding Disorders (RBDs), representing 3-5% of all the inherited coagulation deficiencies, are autosomal recessive diseases leading to lifelong bleeding, relatively neglected by health care providers and drug manufacturers. Based on a decade-long research, an International Registry on 400 patients from 19 countries, was compiled (www.rbdd.org). Major cohorts were from Iran (155) and Italy (154); remaining patients were spread worldwide. According to coagulant activity, 41% of patients were severe (with activity <1% and severe bleedings), 20% moderate (with activity >5% and <10% and non spontaneous bleedings, only after trauma or post-surgery episodes) and 39% mild (activity >10% and very few bleeding episodes after trauma or post surgery); 77% of patients was fully characterized for 165 different mutations (70% novel) increasing knowledge on RBDs genetics by 15%. Despite the existence of this and other RBDs databases, data are not yet sufficient to indicate which course of action is needed to improve diagnosis and treatment. This lacuna could be made up by the collection and organization of clinical, laboratory and treatment data and their statistical analysis using a unique and homogenous model. As the most readily available data come from Europe, we chose to create a network among 10 European Centres in order to develop a novel communication tool for managing, editing and viewing collected information. Due to the great interest raised by this issue, this project was submitted and funded in the frame of both PHEA and ISS. Each Centre will insert and manage patients’ data through a protected access area on the www.rbdd.eu web-site, following the same data collection scheme. Queries and reports are deemed to be fundamental for the research and interrogation of the database. The final goal will be the creation of a unique on-line tool available to all Italian and European Centres, dealing with RBDs. Statistical results derived by all the clinical, therapeutic and genetic information will be available to clinicians and patients, as well as National and Supranational organizations and regulatory agencies (FDA, EMEA). Moreover, data obtained on distribution and treatment of patients could stimulate the interest of pharmaceutical industries in developing new products