Rare disease registries classification and characterization: a data mining approach.

BACKGROUND: The European Commission and Patients Organizations identify rare disease registries (RDRs) as strategic instruments to develop research and improve knowledge in the field of rare diseases. Interoperability between RDRs is needed for research activities, validation of therapeutic treatments, and public health actions. Sharing and comparing information requires a uniform and standardized way of data collection, so levels of interconnection between RDRs with similar aims and/or nature of data should be identified. The objective of this study is to define a classification and characterization of RDRs in order to identify different profiles and informative needs. METHODS: Exploratory statistical analyses (cluster analysis and random forest) were applied to data derived from the EPIRARE project ('Building Consensus and Synergies for the EU Rare Disease Patient Registration') survey on the activities and needs of RDRs. RESULTS: The cluster analysis identified 3 main typologies of RDRs: public health, clinical and genetic research, and treatment registries. The analysis of the most informative variables, identified by the random forest method, led to the characterization of 3 types of RDRs and the definition of different profiles and informative needs. CONCLUSIONS: These results represent a useful source of information to facilitate the harmonization and interconnection of RDRs in accordance with the different profiles identified. It could help sharing the information between RDRs with similar profiles and, whenever possible, interconnections between registries with different profiles.

The EPIRARE proposal of a set of indicators and common data elements for the European platform for rare disease registration.

BACKGROUND: The European Union acknowledges the relevance of registries as key instruments for developing rare disease (RD) clinical research, improving patient care and health service (HS) planning and funded the EPIRARE project to improve standardization and data comparability among patient registries and to support new registries and data collections. METHODS: A reference list of patient registry-based indicators has been prepared building on the work of previous EU projects and on the platform stakeholders' information needs resulting from the EPIRARE surveys and consultations. The variables necessary to compute these indicators have been analysed for their scope and use and then organized in data domains. RESULTS: The reference indicators span from disease surveillance, to socio-economic burden, HS monitoring, research and product development, policy equity and effectiveness. The variables necessary to compute these reference indicators have been selected and, with the exception of more sophisticated indicators for research and clinical care quality, they can be collected as data elements common (CDE) to all rare diseases. They have been organized in data domains characterized by their contents and main goal and a limited set of mandatory data elements has been defined, which allows case notification independently of the physician or the health service. CONCLUSIONS: The definition of a set of CDE for the European platform for RD patient registration is the first step in the promotion of the use of common tools for the collection of comparable data. The proposed organization of the CDE contributes to the completeness of case ascertainment, with the possible involvement of patients and patient associations in the registration process.

[Influenza: waiting for pandemic]. / Influenza: prima o poi la pandemia arriverà

Pandemic flu is a sudden invasive infection, caused by the diffusion to humans of a viral strain characterized by the presence of one or more new surface proteins. Pandemic influenza prevention is among health priorities for WHO, that introduced a world surveillance programme and published Guidelines for preparing national pandemic plans. Following Guidelines, Italy prepared a plan considering human and veterinary health activities, among which the use of vaccines and antiviral drugs, and informative and formative projects.