RARE-Bestpractices Project. Final Conference

RARE-Bestpractices Project Final Conference Domenica Taruscio RARE-Bestpractices Leader Director National Centre for Rrae Diseases Istituto Superiore di Sanità Roma

RARE-Bestpractices Platform for sharing best practices for the management of rare diseases Funded by: the European Union Seventh Framework Programme Funding scheme: Coordination and Support Action (coordinating action) Duration: 4 years (1st January 2013-31st December 2016)

RARE-Bestpractices Coordinator: National Centre for Rare Diseases-Italian National Institute of Health D. Taruscio (CNMR, ISS), Project leader C. Morciano & P. Laricchiuta (CNMR, ISS), coordination team P. Mincarone (CNR, Italy), project management

Objectives 15 Partners 9 Countries

The RARE-Bestpractices project partners - Istituto Superiore di Sanità - National Centre for Rare Diseases - Jamarau - Karolinska Institutet - Healthcare Improvement Scotland - London School of Economics and Political Science - National Research Council - EURORDIS, European Organisation for Rare Diseases - Associazione per la Ricerca sull'efficacia dell'assistenza Sanitaria Centro Cochrane Italiano - Universitaetsklinikum Freiburg - Bulgarian Association for Promotion of Education and Science - Fundación Canaria de Investigación y Salud - Universiteit Maastricht - Institute for Public Health Genomics (IPHG) - Newcastle University Upon Tyne - The European Academy of Paediatrics - Instituto de Salud Carlos III

High number of RD and wide variety of clinical manifestations but several critical aspects are common: RARE DISEASES NEEDS Scarce and scattered patients and experts Scarce resources (e.g. for research, care, information) Difficulties in setting up clinical studies (small number of patients) Weak interest in developing medicinal products due to market conditions Limited or lack of information available to public and healthcare professionals with remarkable differences among EU MS that result in Unmet medical needs: late diagnosis, lack of specific treatments

Directive 2011/24/EU of the European Parliament and of the Council on the application of patients rights in cross-border healthcare What EU Requires to MS The EC encourages Member States in the development of European reference networks between healthcare providers and centres of expertise in the Member States, in particular in the area of rare diseases. Among the criteria to be fulfilled for designation, European reference networks should offer a high level of expertise and have the capacity to produce good practice guidelines and to implement outcome measures and quality control (Art. 12).

In this context the development of guidelines on rare diseases is strongly recommended 1.To support a consistent quality of healthcare services, reducing the mobility of patients across EU and contributing to achievement of equity in access to care 2.To contribute to spread and share information, knowledge and best practices 3. to speed up the uptake of the research efforts into clinical practice 4.To full fill criteria for the designation of ERNs

RARE-Bestpractices aims at improving evidence-informed decision-making in rare diseases and supporting the constitution and work of the European Reference Networks by creating a platform with resources and tools to facilitate the production, access to and interpretation of health care guidelines and other syntheses of evidence on rare diseases.

RARE-Bestpractices work The website & the Newsletter IT platform including 2 databases and consultation tools Methodology Training courses Training tools Survey on value assessment of orphan drugs Scientific Journal

The website & the Newsletter RARE-Bestpractices work IT platform including 2 databases and consultation tools Methodology Training courses Training tools Survey on value assessment of orphan drugs Scientific Journal

RAREGUIDELINE is the database of health care guidelines on rare diseases of the RARE-Bestpractices project Guidelines identified through a systematic approach Each guideline is provided with an indication of the quality assessed through the instrument AGREE II. The database also includes tools to support the development and review of guidelines. HIS: K. Ritchie, J. Harboour, L. Thompson

RAREGAP RAREGAP is the research recommendation database of the RARE-Bestpractices project HIS: K. Ritchie, J. Harboour, L. Thompson Makes available uncertainties and corresponding research recommendations from existing high quality systematic reviews (Cochrane). The role of research recommendations is to highlight uncertainty in existing knowledge and translating this uncertainty into proposals for future research. Conceived for specifying directions on need for further research on rare diseases by identifying gaps in the current research.

Aim Evaluating common methodological quality standards for developing health care guidelines on RD Two workshops - Rome and Freiburg Methodology GRADE approach and Guideline Development Checklist (GDC - cebgrade.mcmaster.ca/guidecheck.html) appropriate for RD Pai M et al. Rare Diseases 2015 3:1, e1058463 Tested in the production of two real guidelines - Catastrophic Antiphospholipid Syndrome - Sickle cell Disease UKLFR: H. J.Schünemann, J. Meerpohl, A. Iorio, collaboration with ASH

Training courses Aim: to promote the development of trustworthy health care guidelines for rare diseases and their use across Europe and to support the establishment of European Reference Networks. For guideline users Critical appraisal of health care guidelines (1 st edition Rome, 23-24, February 2015, 2nd edition Rome, 3-4 December 2015) At the end of the course participants were engaged in the appraisal work ISS: D. Taruscio, P. Laricchiuta, C. Morciano, HIS: K. Ritchie

Critical appraisal of health care guidelines, 1 st edition 23-24, February 2015

Training courses Aim: to promote the development of trustworthy health care guidelines for rare diseases and their use across Europe and to support the establishment of European Reference Networks. Cochrane Italy: G. Filippini, S. Minozzi, C. Del Giovane, R. D Amico For guideline developers Development of guidelines on treatment of RD (Milan, 10-11-12 February 2016) Development of guidelines on diagnosis of RD (Modena, 6-7 June 2016)

Aim: To promote and support the development and use of trustworthy health care guidelines for rare diseases. Two tools released: Training tools 1) a glossary (61 definitions), available at http:///pagine-23-glossary Cochrane Italy: G. Filippini, S. Minozzi, C. Del Giovane, R. D Amico 1) a tutorial on the application of AGREE II on guidelines for rare diseases by using a practical example, available at: available at http:///pagine-28-training_tools

Survey on value assessment of orphan drugs LSE: P. Kanavos, V. Tzouma, Aim Mapping out the policies currently in place in selected EU countries on orphan drugs appraisals and exploring the implications these policies have for coverage decisions. 8 European countries as case study 20 case studies on 20 drug-indication pairs Results presented in a peer-reviewed article (Tordrup D, 2014)

Aim Scientific Journal BAPES: R. Stefanov, G. Iskrov Providing an advanced forum on important aspects of public health, health policy and clinical research for rare diseases fostering interaction among researchers and other key rare disease stakeholder. Rare Diseases and Orphan Drugs An International journal of public health (RARE Journal) is a peer-reviewed journal, published three times per year, with no publishing fees. http://rarejournal.org

Dissemination 11 publications 13 web pages/enews 4 flyers 3 press releases 6 posters 73 conference/workshop presentations - 22 presentations in national conferences/workshop - 51 presentations in international conferences/workshops - Including ICORD 2013, IFLA 2014, G-I-N 2015, 2 nd ERN conference 2015, EAP Congress (special session in 2015)

Location of RBP conferences & workshops

Thank you!!