Project summary
RARE-Bestpractices will develop a sustainable networking platform, supporting the collection of standardized and validated data and efficient exchange of knowledge and reliable information on rare diseases (RD).
RD are characterized by low prevalence (EU – 5:10000 persons). There are more than 5000, overall affecting about 30 million citizens of all ages in the EU. RD are often life-threatening and chronically debilitating, and healthcare is impaired by limited knowledge.
Collaborative efforts are needed to tackle RD to prevent significant morbidity, perinatal or early mortality, to reduce socio-economic burdens and to improve an individual's quality of life.
RARE-Bestpractices aims to improve clinical management of RD patients, narrowing the existing gap among EU Member States (MS) and other countries, also considering the application of patients' rights in cross-border healthcare (EU Directive 2011/24).
The platform deals with RD as a global health issue, exploiting and integrating contributions from all EU MS and other world areas (Caucasus, Europe, America, Oceania, PAHO/WHO) and will identify additional research needs to further improve clinical practice.
Fostering synergistic collaboration among experts, patient representatives, policymakers, institutions, agencies, and other organizations experienced in systematic reviews and guidelines production, RARE-Bestpractices will focus on:
- collection, evaluation and dissemination of existing best practice guidelines;
- an agreed methodology suitable to develop and update best practice guidelines;
- training activities targeted at key stakeholders to spread expertise and knowledge; and
- a forum for exchanging information, sharing lessons learnt, and facilitating collaborations.
The platform is conceived for health care providers, experts, patients, policy makers and best practice guideline developers with outcomes that support closure of healthcare gaps among countries and improved clinical management of RD patients globally.
Work packages leaders
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WP1 Coordination
WP7 Collaboration with IRDiRC
Domenica Taruscio
National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy
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WP2 Platform infrastructure
Jo Auld
Jamarau, United Kingdom
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WP3 Methodology for clinical practices guidelines on rare diseases
Thomas Sejersen
Karolinska Institutet, Sweden
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WP4 Collection of Best practices guidelines and research recommendations on rare diseases
Karen Ritchie
Healthcare Improvement Scotland, United Kingdom
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WP5 Rare diseases technologies and value assessment
Panos Kanavos
London School of Economics and Political science, United Kingdom
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WP6 Dissemination
Cristina Morciano
National Centre for Rare Diseases, Istituto Superiore di Sanità, Italy
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WP8 Project Management
Pierpaolo Mincarone
National Research Council, Italy
The RARE-Bestpractices work plan
The RARE-Bestpractices work plan is organized in 8 distinct yet strategically integrated Work Packages (WP). WP1 is dedicated to the scientific coordination of all activities and to ensure a proactive and synergistic collaboration among partners and other stakeholders. It is also responsible for organization of training activities. The technical infrastructure of the platform will be designed in WP2, in order to allow collection, management and dissemination of data and documents as well as interactions among partners. Two databases (BP guidelines and research recommendations), populated according to criteria defined in WP4, will be reached from a single point of access (website). WP3, WP4 and WP5 are at the core of the project. More specifically, WP3 is responsible for leading work to reach agreement on the methodology for the development of BP guidelines on RD. As an initial activity, a survey will delineate the current state of existing institutional programmes, as well as methods adopted for the development of BP guidelines on RD, in order to understand to what extent we can draw on existing resources. WP3 will then define and formalize the methodology as a documented procedure. To test the standard methodology reached, a pilot BP guideline for a specific RD will be developed, complemented by its version for patients and their families. The pilot BP guideline will then be implemented using an innovative methodology for the effective inclusion of clinical recommendations in a possible information system to assist health professionals in process execution and to allow performance analysis and economic evaluations.
WP4 is dedicated to collecting existing BP guidelines and research recommendations currently scattered in various RD databases and websites and making them accessible through a single point of access. Defining criteria for establishing the collections and the evaluation will be the first activity. WP4 will also give an overview of emerging evidence from basic science (genomics) on RD via horizon scanning. WP5 is responsible for collecting and evaluating orphan drug appraisals in selected EU MS, in order to map out the current processes of EBM (Evidence Based Medicine) and CEA (Cost-Effectiveness Analysis) for orphan drugs and identify and compare current practices among the study countries.
WP6 will guarantee a dissemination plan aimed at sharing project activities and outcomes with relevant stakeholders. WP6 is also designed to create fruitful interaction with relevant EU initiatives such as EUCERD joint action to assure that project outputs will be embedded into health care policies for the benefit of RD patients.
WP7 is dedicated to strengthening the collaboration between IRDiRC and the RARE-Bestpractices Consortium in order to exchange results and information and support IRDiRC mainly in development and sharing of best practice and in the effort to minimize unnecessary redundancy in research.
WP8 is responsible for ensuring the smooth running of the actions monitoring the project in administrative, financial and technical terms.
RARE-Bestpractices consortium
The RARE-Bestpractices project gathers together 15 partners representing 9 countries. Experts on both areas of rare diseases and best practice guidelines development will work together with the involvement of institutions, networks, patient organizations and SME.
To help shape its strategy and support its activities RARE-Bestpractices has set up an Advisory Board of international experts representing European and extra-European organizations/agencies/ all with strong commitment in basic, clinical research on rare diseases such as National Institutes of Health - Office of Rare Diseases Research (NIH-ORDR) and public health. The Advisory Board is also composed of experts representing global networks, e.g. the Guidelines International Network (G-I-N), which supports evidence-based health care, and PAHO/WHO a health agency working to improve health and living standards of the countries of the Americas.