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Platform for sharing best practices for management of rare diseases

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Reliable guidelines for rare diseases management

Despite the low prevalence of rare diseases (RDs), affecting 5 out of 10 000 people in the EU, there are in excess of 5 000 illnesses in this category that are chronically debilitating or life threatening. Affecting some 30 million EU citizens, there is a need to organise a collaborative initiative to reduce socioeconomic costs and improve quality of life.


The EU-funded project RARE-BESTPRACTICES (Platform for sharing best practices for management of rare diseases) created a sustainable networking platform for collecting, evaluating and spreading best practice. This will improve the management of RD patients and promote a consistent level of healthcare services in European countries. A collaborating network was set up with experts in the areas of guidelines, systematic reviews, health technology assessment, health policy, RD epidemiology and public health coming from nine countries across Europe. Project partners developed a methodology for guidelines for RDs. Specially tailored databases were built to house the guidelines and prioritised research recommendations for researchers, policymakers and healthcare providers. The RareGUIDELINE and RareGAP databases presently display 143 quality-appraised guidelines across 31 RDs. RareGAP was conceived to identify where there is a need for further research on RDs. Researchers mapped out policies on orphan drug appraisals in eight European countries. Critical factors leading to positive or negative recommendations for pharmaceutical use are being assessed and also how these feed into clinical practice. The initiative placed great emphasis on training activities targeted at key stakeholders in order to spread expertise and knowledge in the field of guidelines on RDs. Dissemination is critical and is being addressed through newsletters, a leaflet, Twitter, press releases, the project website and several papers in journals. The project also launched a new science open-access journal, Rare Diseases and Orphan Drugs. RARE-BESTPRACTICES will help to ensure that the RD community has access to clear, quality guidelines that they can trust. A unique, first-time event, the project has brought together experts in all fields of RDs and this stands to ensure uptake of the innovative findings by the RD community, including RD national plans, centres of expertise and European reference networks in compliance with EU legislation.


Rare diseases, RARE-BESTPRACTICES, healthcare, orphan drug

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