title: Tackling rare diseases at European level: why do we need a harmonized framework?
abstract: Since 1999 the European Commission has gradually developed a proactive approach towards rare diseases (RD). Despite the progress made over the last years, a comprehensive and evidence based approach is still missing in many EU Member States (MS), leading to an incomplete and often inadequate framework to address rare diseases. Healthcare systems in EU MS differ to great extent among countries in respect to their organization and funding. In general, they are not ready to face the specific problems and needs of people with rare diseases for possible prevention, timely diagnosis, adequate treatment and rehabilitation. Access to new advanced treatment and approved orphan drugs by EMEA is also a big challenge for many MS. A public health approach is needed to properly tackle rare diseases. It is a while that the idea of a comprehensive approach addressing the different challenges of rare diseases is under discussion. In our opinion, the first step to build a comprehensive approach is to properly plan the activities to undertake accordingly to needs, gaps and resources available in a Country. It is therefore important to develop a strategic plan. Adopting a strategic planning approach to rare diseases implies taking advantage of ongoing actions and building on it to adjust, re-orient or expand the response. So far only France has developed a national strategic plan for rare diseases, Bulgaria is in the process of approving its national plan for RD and Spain is in the process of developing it. In this context, considering the importance of developing national plans for RD, it would be very useful to develop recommendations for RD national plan development in order to provide an instrument to support Countries in designing their national plans. The three MS initiatives presented in this paper confirmed the availability of great experiences and expertises among many EU MS and supported the idea that all these different experiences available at the EU level should form the basis for developing recommendations on how to develop strategic plans for RD. The recommendations will provide an instrument to support Countries in designing national plans contributing to the development of a harmonised and evidence based approach for addressing RD in EU MS. The elaboration of a European Commission Communication on rare diseases will ensure that common policy guidelines are shared everywhere in Europe. The availability of recommendations for developing national plans on rare diseases will link MS efforts with a common strategy at European level.
authors.affiliation: National Centre Rare Diseases, Istituto Superiore di Sanità, Roma.
authors.forename: Domenica
authors.initials: D
authors.lastname: Taruscio
authors.forename: Annalisa
authors.initials: A
authors.lastname: Trama
authors.forename: Rumen
authors.initials: R
authors.lastname: Stefanov
mesh_terms: D005062:European Union; D006291:Health Policy / Q000331:legislation & jurisprudence; D006801:Humans; D009313:National Health Programs / Q000331:legislation & jurisprudence; D009965:Orphan Drug Production / Q000331:legislation & jurisprudence; D035583:Rare Diseases / Q000188:drug therapy / Q000453:epidemiology