RADeep, the Rare Anaemia Disorders European Epidemiological Platform, is a joint venture conceived in the core of ERN-EuroBloodNet, the European reference network for rare hematological disorders, as an umbrella for both new and already existing European patients’ registries in rare anaemias (RAs).
Ensuring interoperability with European structures fostering research; RADeep will allow mapping at the European level the diagnosis methods, demography, survival rate, main clinical features and treatments of RA patients in order to improve access to specialized and adequate health care and facilitate research and development of new treatments, thus increasing the knowledge and promoting best practices across EU.
RADeep’s Principle is to maximize public benefit from data on RAs opened-up through the platform with the only restriction needed to guarantee patient’s rights and confidentially in agreement with EU regulations for cross-border sharing of clinical data.
Accordingly, a legal frame for RADEEP secure sharing and re-use of data on patients affected by RAs enabling both entering certified medical data from available sources and re-use of data with third parties, namely other ERNs, research community and industry has been established from the outset.
Due to complications of the disease but also of the treatment, RAs become over time multi-organ disorders, requiring the involvement of several medical and paramedical specialties. This creates an important burden in the health systems that require monitoring of trends allowing shaping policies aiming to ensure the cost-effective allocation of resources. In the case of RAs, this is particularly important since expertise cannot be made available in every health unit with very small numbers of patients. However, health authorities cannot proceed with the development of services without reliable epidemiological information through patient registries.
Epidemiological data of high quality are also important for engage research and clinical trials because they can direct researchers to the available and suitable patient groups. Basic clinical information is required to describe the clinical status of patients that can comply with the inclusion criteria for a clinical trial, and on the other hand, other patients can be excluded if a registry is well-designed. Registries provide summary data that can be expanded and modified for specific research objectives.
A European approach for the standardised collection of data regarding the main clinical complications of RAs is fundamental to establish the need and the priorities in the development of research projects and clinical trials. By definition, an efficient registry is the best tool to put into contact the patient of any rare disease and basic research, both from industry and academia, with reciprocal advantages in terms of generation and access to high quality clinical trials.
Regarding RAs diagnosis, methods for more common groups, i.e. haemoglobinopathies are well established and wide implemented in a harmonized way, however when it comes to less frequent RAs, diagnosis tests are not always available even at the national level, and there is a lack of consensus methodology, guidelines and external quality assessment. This leads to a delay in the time of patients’ diagnosis and increase the number of undiagnosed or misdiagnosed patients. Thus, underestimating the number of patients and hampering their adequate treatment and follow-up. RADeep will enable the correct diagnosis of patients include in the Registry by facilitating the access to reference laboratories through ERN-EuroBloodNet while promoting best practices at the EU level.
All in all, high-quality epidemiological data is critical to persuade ministries of health, policy makers, funders and the pharmaceutical industry to devote appropriate resources to tackle RAs at local and global level.