European Network of Rare Bleeding Disorders (EN-RBD)

Congenital deficiencies of plasma proteins involved in blood coagulation generally lead to lifelong bleeding disorders, whose severity is inversely proportional to the degree of factor deficiency (less factor/more bleeding). Rare Bleeding Disorders (RBDs) such as afibrinogenemia, Factor (F)II, FV, FV+VIII, FVII, FX, FXI and FXIII deficiencies are autosomal recessive diseases and represent 3% to 5% of all inherited coagulation deficiencies. Their distribution is variable in the world with a prevalence ranging from approximately 1 in 2 million for FII and FXIII deficiency to 1 in 500,000 for FVII deficiency. Due to their rarity, RBDs are typically orphan diseases, relatively neglected by health care providers, advocacy organizations, and drug manufacturers. Treatment of patients with RBDs during bleeding episodes or surgery is a challenge because of the lack of experience, paucity of data, unavailability of factor concentrates for some deficiency states and the possible occurrence of severe complications, which can be minimized by assessment risks of bleeding and thrombosis, use of haemostatic means other than blood components or no therapy at all. Moreover, the establishment of the genotype-phenotype correlation for each deficiency and the study of the genetic origin of these disorders may lead to prevention through prenatal diagnosis and to the discovery of new treatment strategies. Unfortunately, no suitable clinical trials exist to supply good evidence on how these people should best be treated and this lack has to be taken into account in the production of a suitable guideline. The lacuna of adequate information on clinical manifestations, treatment and genetic basis of RBDs can be made up for by the collection and organization of data and by their accurate statistical analysis. With this aim in mind, we have already developed an International Database on RBDs called Rare Bleeding Disorders Database (RBDD) (www.rbdd.org), based on decade-long research and the analysis of more than 250 patients affected by RBDs and designed to report clinical, laboratory (specific and advanced coagulation tests), genetic (mutation detection, in vitro expression study, and requirements for prenatal diagnosis) and therapeutic information. This database arises from the project "Establishment of a European Network of Rare Bleeding Disorders (EN-RBD)" funding from the European Union, in the framework of the Public Health Programme Nonetheless, the data collected so far are not as yet sufficient to indicate which course of action is needed to improve both diagnosis and treatment of RBDs, or provide evidence-based diagnostic and therapeutic guidelines. Hence, the aim of this project is to set up a European network of Treatment Centres, using the existing RBDD as the starting point, in order to increase the collection of clinical, genetic, and treatment data, and to develop a computer tool with the purpose of managing, editing and viewing all inserted data and making them readily available through database queries. Data could be made available through the existing RBDD, which will be developed and implemented in an Internet-accessible database (www.rbdd.eu), consisting of the following elements: - a public section containing the results of the data collection - a protected access area for authorized Centres to insert new data, which will monitor, process, and manage stored data. Standardization in collecting and analysing data will allow, firstly, European countries (through the collaboration of Centres participating already), and subsequently, all Treatment Centres worldwide, to share their research results, with the final goal of filling the gap between clinical data and clinical practice. RBDD will also constitute a valid source of information for clinical surveys of National and Supranational Health Organizations wishing to take healthy action in the field of RBDs.