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Open Access

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases

  • D Taruscio1,
  • C Morciano1,
  • P Laricchiuta1,
  • P Mincarone2,
  • F Palazzo2,
  • CG Leo2,
  • S Sabina2,
  • R Guarino2,
  • J Auld3,
  • T Sejersen4,
  • D Gavhed4,
  • K Ritchie5,
  • M Hilton-Boon5,
  • J Manson5,
  • PG Kanavos6,
  • D Tordrup6,
  • V Tzouma6,
  • Y Le Cam7,
  • J Senecat7,
  • G Filippini8,
  • S Minozzi8,
  • C Del Giovane8,
  • H Schünemann9,
  • JJ Meerpohl9,
  • B Prediger9,
  • L Schell9,
  • R Stefanov10,
  • G Iskrov10,
  • T Miteva-Katrandzhieva10,
  • P Serrano-Aguilar11,
  • L Perestelo-Perez11,
  • MM Trujillo-Martín11,
  • J Pérez-Ramos11,
  • A Rivero-Santana11,
  • A Brand12,
  • H van Kranen12,
  • K Bushby13,
  • A Atalaia13,
  • J Ramet14,
  • L Siderius14,
  • M Posada15,
  • I Abaitua-Borda15,
  • V Alonso Ferreira15,
  • M Hens-Pérez15 and
  • FJ Manzanares15
Orphanet Journal of Rare Diseases20149(Suppl 1):O14

Published: 11 November 2014


Health Care ProviderRare DiseaseClinical Practice GuidelineScientific JournalAcademic Institution

Rare diseases; clinical practice guidelines; recommendations

RARE-Bestpractices ( is a 4-year project (2013-2016) funded by the EC FP7. The project aims at improving clinical management of patients with rare diseases (RD) and at narrowing the existing gap in quality of healthcare among countries.


RARE-Bestpractices ( involves 9 EU countries, including 15 partners from academic institutions, governmental bodies, patient organizations and networks, which will exploit the added value of integrating different contributions and viewpoints.

The platform is developed involving both experts in RD research as well as experts in clinical practice guidelines (CPG) and systematic reviews.


Project expected outputs include: 1) identification of challenges to be considered in deriving high quality standards for CPG on RD; 2) transparent procedures and criteria for the evaluation of CPG and their collection in a publicly searchable database; 3) identification of notation criteria to improve user understandability and implementation of CPG; 4) production of mechanisms to assess RD clinical research needs; 5) development of training activities targeted to key stakeholders to disseminate process and tools for developing and evaluating CPG; 6) the publication of a new scientific journal (


RARE-Bestpractices addresses the demands from both patients and health care providers for updated and high quality CPG on RD. The project will meet the requirements laid down by to the Directive 2011/24/EU, which endorses EU MS to develop European Reference Networks (ERNs) for RD; in fact, one main criterion for ERNs should be the competence to produce CPG and actively disseminate them among Centers of Expertise.

Authors’ Affiliations

National Centre for Rare Diseases, Istituto Superiore di Sanità, Rome, Italy
National Research Council, Rome, Italy
Jamarau, London, UK
Karolinska Institutet, Stockholm county, Sweden
Healthcare Improvement Scotland, Edinburgh, Scotland
London School of Economics and Political Science, London, UK
EURORDIS, European Organisation for Rare Diseases, Paris, France
Associazione per la Ricerca sull’Efficacia dell’Assistenza Sanitaria Centro Cochrane Italiano, Milan, Italy
University of Freiburg, Freiburg, Germany
Bulgarian Association for Promotion of Education and Science, Plovdiv, Bulgaria
Fundación Canaria de Investigación y Salud, Las Palmas de Gran Canaria, Canary Islands
Universiteit Maastricht, Maastricht, the Netherlands
University of Newcastle Upon Tyne, Newcastle, UK
The European Academy of Paediatrics, Geneva, Switzerland
Institute of Rare Diseases Research, Instituto de Salud Carlos III, Madrid, Spain


© Taruscio et al; licensee BioMed Central Ltd. 2014

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver ( applies to the data made available in this article, unless otherwise stated.