Rare diseases
(BRUSSELS) – The EU Commission launched Thursday, Rare Disease Day, a new online knowledge-sharing platform to support better diagnosis and treatment for more than 30 million Europeans living with a rare disease.
Currently a vast amount of data on patients with specific conditions is scattered across Europe in about 600 ‘registries’ – databases that hold information on patients with specific conditions. Data is not collected EU-wide and there are no shared standards to analyse the information that is available on rare diseases.
The new European Platform on Rare Diseases Registration will bring this data together supporting the quality research that can enhance diagnosis and treatment outcomes – helping to improve the lives of patients and their families.
“This platform will help scientists, policy-makers and patients alike make the most of data on rare diseases that have, until now, remained largely untapped,” said Commissioner Tibor Navracsics: “By setting EU-wide standards for data collection and exchange, the platform will also mean that information collected in the future can more easily be compared across Europe.”
Mr Navracsics assured patients that they could rest assured that their private data will remain private “while benefiting from improved diagnosis and treatment.”
A rare disease can affect someone from birth, like cystic fibrosis, or it can develop later in life, like Huntington’s disease. Despite the large total numbers of those affected in Europe, information on effective diagnosis and treatment strategies are not collected in a uniform way and are often not shared among registries or across countries. As a consequence, patients often suffer alone with little or no hope of being cured.
There are in fact very few national rare disease registries in the EU – most are managed by individual hospitals, research institutions, pharmaceutical companies or patient advocacy groups. The type of data collected varies widely. Some are focused on developing medicines for particular diseases, while others may be more interested in tracking instances of rare diseases over time, for example.
The new platform will substantively improve this situation, says the Commission. Available online and open to the public, it merges registry data sources to foster the critical mass of patient data needed to trigger pharmacological, translational or research studies.
The Platform includes a registry infrastructure consisting of:
- the European Directory of Registries, which gives an overview of each participating registry;
- the Central Metadata Repository, which stores all types of variables used by the registries;
- a data protection tool, which makes sure patient data is held under a pseudonym and cannot be traced back to the individual.
By providing EU standards for data collection and data sharing, the platform will for the first time make it possible to search data of rare disease patients. This significant achievement will allow the creation of critical knowledge for a given disease, enabling research and supporting patients, health care providers and policy-makers.
The platform will be an important asset for the European Joint Programme on Rare Diseases which aims to establish a research and innovation pipeline for rapid translation of research results into clinical applications and uptake in healthcare. Through this programme, the platform resources can be used in future research projects and disseminated to a wider community of rare disease researchers, clinicians and patients in the EU and beyond.
European Platform on Rare Disease Registration (EU RD Platform)
