Developing Methodology for the Creation of Clinical Practice Guidelines for Rare Diseases: A Report from RARE-Bestpractices

RARE-Bestpractices Consortium

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Rare diseases are a global public health priority; they can cause significant morbidity and mortality, can gravely affect quality of life, and can confer a social and economic burden on families and communities. These conditions are, by their nature, encountered very infrequently by clinicians. Thus, clinical practice guidelines are potentially very helpful in supporting clinical decisions, health policy and resource allocation. The Grading of Recommendations Assessment, Development and Evaluation (GRADE) system is a structured and transparent approach to developing and presenting summaries of evidence, grading its quality, and then transparently interpreting the available evidence to make recommendations in health care. GRADE has been adopted widely. However, its use in creating guidelines for rare diseases – which are often plagued by a paucity of high quality evidence - has not yet been explored. RARE-Bestpractices is a project to create and populate a platform for sharing best practices for management of rare diseases. A major aim of this project is to ensure that European Union countries have the capacity to produce high quality clinical practice guidelines for rare diseases. On February 12, 2013 at the Istituto Superiore di Sanità, in Rome, Italy, the RARE-Bestpractices group held the first of a series of two workshops to discuss methodology for creating clinical practice guidelines, and explore issues specific to rare diseases. This paper summarizes key results of the first workshop, which focused on exploring how the current GRADE approach might (or might not) work for rare diseases. Avenues for future research are also identified.
Original languageEnglish
Article numbere1058463
Number of pages9
JournalRare Diseases
Issue number1
Early online date29 Sept 2015
Publication statusPublished - 2015

Bibliographical note

Date of Acceptance: 29/05/2015

The research leading to these results has received funding from the (FP7/2007–2013), under grant agreement n 305690 (RARE-Bestpractices project). The opinions, presented here
reflect only the authors’ views. The European Union is not liable for any, use that may be made of the information contained herein.


  • clinical practice guideline
  • critical appraisal
  • data quality
  • evidence-based medicine
  • health care quality
  • access, and evaluation
  • rare diseases


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