Research Institute on Population and Social Policies




RARE-Bestpractices has developed a networking platform to support the collection of standardized and validated data and an efficient exchange of knowledge and reliable information on rare diseases (RMs).

The project was funded by the European Union: Grant Agreement - FP7-HEALTH-2012-Innovation-1-305690

The specificities of rare diseases, including limited patient numbers, the large number of rare diseases and their diversity with respect to origin and clinical manifestations, create challenges that make research advances and knowledge creation very difficult.

Starting from the request for greater knowledge and the need to share it, the four-year project funded by the European Union RARE-Bestpractices - Platform for sharing best practices for the management of rare diseases ( - Grant Agreement FP7-HEALTH -2012-Innovation-1-305690 - worked to create a sustainable networking platform to collect, evaluate and disseminate Best Practices in order to improve the management of patients with rare diseases and to promote a consistent level of care services in European countries .

A collaborative network was created with experts in the fields of guidelines, systematic literature reviews, technology assessment, rare disease epidemiology, public health from nine European countries. The main results were:

- A methodology for the production and evaluation of rare disease guidelines was agreed.

- A systematic collection of research guidelines and recommendations on rare diseases was carried out (these documents are collected in two specific databases available on the project website).

- An analysis of the criteria for defining the value of orphan drugs was carried out in 8 member states.

- A peer-reviewed and open access journal was created on the topic of rare diseases (;

- Two editions of the international course “Health care guidelines on rare diseases. Quality assessment ".

- Training tools have been produced to assist guideline developers and evaluators.

- A collaboration has been activated with the International Rare Diseases Research Consortium (IRDiRC).

- Scientific coordination and networking was guaranteed.

The role of the CNR (present with IRPPS and the Institute of Clinical Physiology) is reported:
- Project Management;
- Healthcare Process Modeling - graphic representation of care processes using standard languages;

- Policy Analysis - analysis of policies for determining the value of health technologies, especially in conditions of scarce evidence.

CNR has prepared the following deliverable: Method of representation of BP guideline through Standardized notations / languages ​​for graphical representation of healthcare processes


CNR participated in the following publications:

Mincarone P, Leo CG, Sabina S, Sarriá-Santamera A, Taruscio D, Serrano-Aguilar P, Kanavos PG. Reimbursed Price of Orphan Drugs: Current Strategies and Potential Improvements. Public Health Genomics, 2017. DOI: 10.1159 / 000464100.

Mincarone P, Leo CG, Sabina S, Tordrup D, Taruscio D, Kanavos P. Reimbursed Price of Orphan Drugs: A Value Based Framework. Value Health. 2015; 18 (7): A678.

Sejersen T, Del Giovane C, Filippini G, Leo CG, Meerpohl JJ, Mincarone P, et al. Methodology for production of best practice guidelines for rare diseases. RARE DISEASES AND ORPHAN DRUGS. 2014; 1 (1); 10-19.

Pai M, Iorio A, Meerpohl J, et al. Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices. Rare Dis. 2015; 3 (1): e1058463. doi: 10.1080 / 21675511.2015.1058463.

Taruscio D, Morciano C, Laricchiuta P, et al. RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases. Orphanet J Rare Dis. 2014; 9 (Suppl 1): O14. doi: 10.1186 / 1750-1172-9-S1-O14.