{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T22:17:48Z","timestamp":1790979468658,"version":"4.1.0"},"reference-count":53,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T00:00:00Z","timestamp":1611619200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>In the field of rare diseases (RDs), the evidence standard is often lower than that required by health technology assessment (HTA) and payer authorities. In this commentary, we propose that appropriate economic evaluation for rare disease treatments should be initially informed by cost-of-illness (COI) studies conducted using a societal perspective. Such an approach contributes to improving countries\u2019 understanding of RDs in their entirety as societal and not merely clinical, or product-specific issues. In order to exemplify how the disease burden\u2019s distribution has changed over the last fifteen years, key COI studies for Hemophilia, Fragile X Syndrome, Cystic Fibrosis, and Juvenile Idiopathic Arthritis are examined. Evidence shows that, besides methodological variability and cross-country differences, the disease burden\u2019s share represented by direct costs generally grows over time as novel treatments become available. Hence, to support effective decision-making processes, it seems necessary to assess the re-allocation of the burden produced by new medicinal products, and this approach requires identifying cost drivers through COI studies with robust design and standardized methodology.<\/jats:p>","DOI":"10.3390\/ijerph18031101","type":"journal-article","created":{"date-parts":[[2021,1,26]],"date-time":"2021-01-26T23:01:28Z","timestamp":1611702088000},"page":"1101","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Reflections on the Importance of Cost of Illness Analysis in Rare Diseases: A Proposal"],"prefix":"10.3390","volume":"18","author":[{"given":"Patrizio","family":"Armeni","sequence":"first","affiliation":[{"name":"Cergas (Centre for Research on Health and Social Care Management), SDA Bocconi School of Management, 20136 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Cavazza","sequence":"additional","affiliation":[{"name":"Cergas (Centre for Research on Health and Social Care Management), SDA Bocconi School of Management, 20136 Milan, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0904-9225","authenticated-orcid":false,"given":"Entela","family":"Xoxi","sequence":"additional","affiliation":[{"name":"Independent Pharmacologist Scientific Advisor in Rare Disease Pharmaceuticals and Registries, 00184 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5403-233X","authenticated-orcid":false,"given":"Domenica","family":"Taruscio","sequence":"additional","affiliation":[{"name":"National Centre for Rare Diseases, Istituto Superiore di Sanit\u00e0, 00162 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6904-7451","authenticated-orcid":false,"given":"Yllka","family":"Kodra","sequence":"additional","affiliation":[{"name":"National Centre for Rare Diseases, Istituto Superiore di Sanit\u00e0, 00162 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2021,1,26]]},"reference":[{"key":"ref_1","first-page":"e273","article-title":"Evidence and values: Requirements for public reimbursement of drugs for rare diseases\u2014A case study in oncology","volume":"16","author":"Drummond","year":"2009","journal-title":"Can. 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