OBJECTIVES: To review the success or failure in implementation of policies as a consequence of the 2009 European Commission (EC) recommendation on rare diseases. METHODS: The policy context prior to publication of the 2009 EC recommendation on rare diseases was identified using data published through EUROPLAN. Levels of achievement in implementing national plans or strategies and key indicators by European Union (EU) Member States were ascertained from published data. Nine countries were excluded as plans were not available in English; these countries were Cyprus, Denmark, Greece, Latvia, Lithuania, Luxembourg, Norway, Portugal and Switzerland. RESULTS: Prior to the EC recommendation, there were differences in policy regarding rare diseases throughout the EU. After its implementation, all seventeen countries included in this study created a national plan or strategy. Objectives were similar in each country and closely followed the EC recommendation. Sixteen countries achieved adequate definition, codification and inventorying rare diseases, as well as identifying ongoing national research projects, resources and priorities and provisions for cross-border collaboration. All seventeen countries also achieved: identifying appropriate national centres for participation in European Reference Networks, improved training and participation in European projects, patient organisation involvement in decision making and policy, and improved access to the social care system, for patients and their families. Fifteen countries also achieved provisions for pre and post graduate education of healthcare professionals. Sixteen countries achieved provision of national registries. Thirteen countries reported contributions to Orphanet. CONCLUSIONS: The EC recommendation provided a structure for countries when developing their rare disease plans and strategies, and has proved effective by the implementation of national plansThe needs of rare disease patients are now stated as a priority for EU countries, with most indicators assessed being achieved. However, adherence to indicators varied, so there is still irregularity in the rare disease landscape throughout the EU