Health professionals and researchers need to pool data from patients to understand the course of a disease and investigate on new diagnostic procedures and treatments in order to improve the healthcare delivered to patients. However, when it comes to rare diseases, it is frequently difficult to gather enough data at the national level for validating efficiency and safety of a new healthcare treatment or procedure. For this reason, European collaboration is required to give robustness to provision of healthcare services to patients with a rare disease, as it is the case for rare anaemia disorders.
In order to enable this European collaboration, the European Commission officially established on the 1st March 2017 the European Reference Networks of centres of expertise on 24 medical areas covering rare diseases, while in addition, the European Commission established in 2019 the European Union Rare Disease Platform (EU-RD-Platform) as an umbrella platform for pooling data from patients affected by any rare disease across Europe.
RADeep is the acronym for the Rare Anaemia Disorders European Epidemiological Platform. RADeep is an initiative for pooling data from patients affected by a rare anaemia disorder, built in line with ENROL and the EU-RD-Platform recommendations for patients' registries on rare disorders. RADeep contributes to ENROL sharing pseudonymised data of patients affected by a rare anaemia disorder.
Few treatments are available for rare anaemia disorders, being bone marrow transplant the only curative treatment nowadays. Nevertheless, bone marrow transplant is not feasible for all patients and still present many important risks for the individual. Fortunately, thanks to last advances, many drugs and therapeutic options as gene therapy are being tested in clinical trials and will offer new options for patients affected by a rare anaemia disorder. RADeep will allow mapping at the European level not only the methods for diagnosis and the main clinical features and treatments of patients affected by a rare anaemia disorder, but also demography and survival rate, in order to facilitate the access to specialized and adequate healthcare and engage research and development of new treatments, thus increasing the knowledge and promoting best practices across EU.