{"id":32953,"date":"2021-11-23T07:46:54","date_gmt":"2021-11-23T07:46:54","guid":{"rendered":"https:\/\/www.irpps.cnr.it\/rare-bestpractices\/"},"modified":"2026-03-02T13:01:57","modified_gmt":"2026-03-02T13:01:57","slug":"rare-bestpractices","status":"publish","type":"page","link":"https:\/\/www.irpps.cnr.it\/en\/rare-bestpractices\/","title":{"rendered":"RARE-Bestpractices"},"content":{"rendered":"\t\t
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RARE-Bestpractices has developed a networking platform to support the collection of standardized and validated data and the efficient exchange of reliable knowledge and information on rare diseases (RD).<\/p>

The project was funded by the European Union: Grant Agreement \u2013 FP7-HEALTH-2012-Innovation-1-305690<\/p><\/div><\/div><\/div><\/div><\/div>

Abstract:<\/strong><\/p><\/div><\/div><\/div><\/div>

The specificities of rare diseases, including the limited number of patients, the large number of rare diseases, and their diversity in terms of origin and clinical manifestations, create challenges that make research progress and knowledge creation very difficult.<\/p>

Building on the demand for greater knowledge and the need to share it, the four-year European Union-funded project RARE-Bestpractices \u2013 Platform for sharing best practices for the management of rare diseases (www.rarebestpractices.eu) \u2013 Grant Agreement FP7-HEALTH-2012-Innovation-1-305690 \u2013 worked to create a sustainable networking platform to collect, evaluate, and disseminate Best Practices to improve the management of patients with rare diseases and promote a consistent level of care services across European countries.<\/p>

A collaborative network was established with experts in guidelines, systematic literature reviews, technology assessment, rare disease epidemiology, and public health from nine European countries. The main results were: <\/p>

\u2013 A methodology for the production and evaluation of rare disease guidelines was agreed upon.<\/p>

\u2013 A systematic collection of guidelines and research recommendations on rare diseases was carried out (these documents are collected in two specific databases available on the project website).<\/p>

\u2013 An analysis of the criteria for defining the value of orphan drugs in 8 member states was conducted.<\/p>

\u2013 A peer-reviewed, open-access journal on rare diseases was created (http:\/\/rarejournal.org\/rarejournal<\/a>);<\/p>

\u2013 Two editions of the international course \u201cHealth care guidelines on rare diseases. Quality assessment\u201d were organized.<\/p>

\u2013 Training tools were produced to assist guideline developers and evaluators.<\/p>

\u2013 A collaboration with the International Rare Diseases Research Consortium (IRDiRC) was established.<\/p>

\u2013 Scientific coordination and networking were ensured.<\/p>

The role of the CNR (represented by IRPPS and the Institute of Clinical Physiology) is reported:
\u2013 Project Management;
\u2013 Healthcare Process Modelling \u2013 graphical representation of care processes using standard languages;<\/p>

\u2013 Policy Analysis \u2013 analysis of health technology value determination policies, especially in conditions of limited evidence.<\/p><\/div><\/div><\/div><\/div><\/div>

Research products:<\/strong><\/p><\/div><\/div><\/div><\/div>

CNR prepared the following deliverable: Method of representation of BP guideline through Standardised notations\/ languages for graphical representation of healthcare processes<\/p>

(http:\/\/www.cnr.it\/peoplepublic\/peoplepublic\/index\/downloadprodotto\/i\/119746)<\/a><\/p>

CNR participated in the following publications:<\/p>

Mincarone P, Leo CG, Sabina S, Sarria\u0301-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. https:\/\/www.karger.com\/Article\/FullText\/464100<\/a><\/p>

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. <\/p>

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. http:\/\/rarejournal.org\/rarejournal\/article\/view\/35<\/a><\/p>

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. https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4590012\/<\/a><\/p>

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. https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4249596\/<\/a><\/p><\/div><\/div><\/div><\/div><\/div>

Official website of the European project:<\/strong><\/p><\/div><\/div><\/div><\/div>

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Participants<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tPierpaolo Mincarone - Lead<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tGiuseppe Ponzini<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t
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\n\t\t\t\t\t\n\t\t\t\t\t\t\n\t\t\t\t\t\t\t\t\tOther SITA projects<\/span>\n\t\t\t\t\t<\/span>\n\t\t\t\t\t<\/a>\n\t\t\t\t<\/div>\n\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"

RARE-Bestpractices RARE-Bestpractices has developed a networking platform to support the collection of standardized and validated data and the efficient exchange of reliable knowledge and information on rare diseases (RD). The project was funded by the European Union: Grant Agreement \u2013 FP7-HEALTH-2012-Innovation-1-305690 Abstract: The specificities of rare diseases, including the limited number of patients, the large […]<\/p>\n","protected":false},"author":3,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"categories":[],"tags":[],"class_list":["post-32953","page","type-page","status-publish","hentry"],"_links":{"self":[{"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/pages\/32953","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/comments?post=32953"}],"version-history":[{"count":1,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/pages\/32953\/revisions"}],"predecessor-version":[{"id":32957,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/pages\/32953\/revisions\/32957"}],"wp:attachment":[{"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/media?parent=32953"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/categories?post=32953"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.irpps.cnr.it\/en\/wp-json\/wp\/v2\/tags?post=32953"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}