Pooling data from patients affected by a concrete disorder is needed to understand the course of the disease and investigate on new options for diagnostic procedures and treatments improving the healthcare delivered. When it comes to rare diseases, it is frequently difficult to gather data at the national level enough for validating efficiency and safety of a new healthcare service. For this reason, European collaboration is required to give robustness to provision of heathcare 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. The main goal of the European Reference Networks is promoting equal access to best health care to European citizens living with a rare disease. 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.
EuroBloodNet is the name of the European Reference Network for rare haematological disorders, the rare diseases of blood. The European Blood Disorders Platform, called ENROL, is the EuroBloodNet umbrella platform for European patients' registries on rare haematological diseases. ENROL contributes to the EU-RD-Platform.
RADeep is the acronym for the Rare Anaemia Disorders European Epidemiological Platform. RADeep is an initiative conceived in the core of EuroBloodNet for pooling data from patients affected by a rare anaemia disorder. RADeep is built in line with ENROL and the EU-RD-Platform recommendations for patients' registries on rare disorders. RADeep contributes to ENROL and EU-RD-Platform.
Rare anaemia disorders is a group of rare haematological diseases characterized by having anaemia, decrease of haemoglobin concentration in blood, as the main clinical manifestation. Rare anaemia disorders affect less than 5 cases for 10,000 individuals.
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 the diagnosis methods, demography, survival rate, main clinical features and treatments of patients affected by a rare anaemia disorder in order to facilitate access to specialized and adequate healthcare and engage research and development of new treatments, thus increasing the knowledge and promoting best practices across EU.
Accordingly, a legal frame for RADeep secure sharing and re-use of data on patients affected by RAD 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, RAD 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 RAD, 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 RAD 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 RAD 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 RAD, 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 RAD at local and global level.