The objective is to promote action on the prevention of rare diseases (RD) and to provide analysis and technical assistance in support of the development or implementation of a policy in the area of rare diseases and orphan drugs (OD).
Most RD are life-threatening and chronically debilitating conditions, and the vast majority of them are genetically determined. The individually low prevalence requires special combined efforts to address these diseases, with the aim of improving diagnosis, care and prevention. Though it is difficult to develop a public health policy specific to each rare disease, it is possible to have a global rather than a piecemeal approach in the areas of scientific and biomedical research, drug research and development, industry policy, information and training, social benefits, hospitalisation, and outpatient care. This global approach is provided by the present project.
Scientific support for the activities of the RDTF by identifying already documentable indicators that are relevant to RD and then collecting further data on a yearly basis; disseminating political and scientific information to all stakeholders through ad-hoc reports and an electronic newsletter, including information on national and EU initiatives and incentives; liaising between EU agencies and services and major stakeholders to enhance collaborations and maximise input and outcomes; developing methods for assessing the EU added-value of networks of centres of expertise for rare diseases, including those currently funded; providing further assistance to the RDTF on other scientific issues that may be identified in the course of this project. The objective is also to improve the traceability of RD in health information systems by assigning International Classification of Diseases codes (ICD10) to all rare diseases; proposing changes to improve the classification in view of future adoption of the ICD11, using the technical platform developed by the WHO and with the assistance of an international expert group that will be established; cross-referencing with other classification systems such as MedDRA and SNOMED-CT and posting this information on the Orphanet website, in a format adapted to the needs of the information system community to maximise its use.
• The dissemination of an annual report providing an overview of the progress made toward a better approach to meet the needs of the RD patient community and proposing recommendations for future action at the MS and EU levels.
• The definition of indicators that are relevant, reliable, useful, valid, applicable and feasible in order to monitor the public health impact of rare diseases and the effect of policies in place. The indicators will be analysed at annual workshops, and this analysis will be published as a report to be made available on the DG Sanco and RDTF websites.
• The electronic publication of an English-language bimonthly newsletter, containing scientific and political facts of interest to the RD community, “OrphaNews Europe”.
• The assignment of a specific ICD code to all RD. All these codes will be accessible from the Orphanet website and distributed as flat files on request.
• The establishment of a new classification of diseases in which RD will be fairly represented, and its adoption by the WHO standing committees. The appropriateness of the new classification system will be assessed by a field testing exercise organised by CR Veneto, prior to submission to the WHO.
• To have all RD cross-referenced in all coding systems: MedDRA, SNOMED-CT and MeSH.