RARE-Bestpractices aims to ensure that rare disease patients benefit from current knowledge of best practices in the diagnosis and management of their condition. The project will do this by creating a platform where this knowledge can be shared globally.

Two databases are in development: one for rare disease clinical practice guidelines, and another which records gaps in knowledge, known as ‘uncertainties’ or research recommendations. Healthcare Improvement Scotland is leading activities (under Work Package 4) to identify and organise the information that will be made accessible through these databases, while Jamarau Ltd is leading work on development of the infrastructure (under Work Package 2).

The vision for the future is that guideline developers and other interested parties will be able to submit information (such as guideline documents) directly to the databases, with a view to encouraging coverage for all rare diseases. Until then, our work aims to create an initial collection of best practice guidelines and research recommendations on a range of topics to show how the platform can be used.

The project partners, advisory board, and European Academy of Paediatrics have all contributed to an initial list of rare diseases for which we will search for guidelines. Patient involvement has been facilitated by EURORDIS. A method of searching for guidelines has been tested and agreed. In October 2014, a workshop will be held for the project partners (Istituto Superiore di Sanità, Karolinska Institutet, Fundación Canaria de Investigación y Salud, Instituto de Salud Carlos III) and associates who will participate in contributing records to the databases. The workshop will also address how we should appraise the quality of rare disease guidelines.