{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T15:49:07Z","timestamp":1791906547469,"version":"4.3.4"},"reference-count":30,"publisher":"Oxford University Press (OUP)","license":[{"start":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:00:00Z","timestamp":1791849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>Rare diseases (RDs) present major challenges in diagnosis, treatment access, and care coordination. Pharmacists are increasingly recognized as important contributors in the management of patients with RDs. The aim of this study was to assess pharmacist contributions in RD management and to develop a framework to strengthen their involvement in patient care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A mixed-methods design was adopted. Semi-structured interviews were conducted with healthcare stakeholders and patient support groups. Interview data was thematically analysed to identify key patterns and insights regarding the current landscape of RD care and pharmacist involvement. Findings informed the development of a pharmacist-led contributions framework, which was subsequently refined through two Delphi rounds involving an expert panel.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Key findings<\/jats:title>\n                    <jats:p>Stakeholders highlighted barriers to effective RD management including fragmented coordination, limited clinical expertise, and challenges in medicine access and procurement. Pharmacists were recognized for their key roles in navigating medication access, management of treatment costs, ensuring medication safety, and providing patient education and support. The expert-informed framework outlined strategies to strengthen pharmacist contributions through formal integration of pharmacists within multidisciplinary teams, enhanced collaboration with patient support groups, and streamlined procurement systems.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The work demonstrates significant pharmacist contribution in RD care and introduces an expert-informed framework to guide their involvement. By promoting formal integration of pharmacists into multidisciplinary teams, and improving system coordination, the framework provides a foundation for supporting patients with RDs and their medication needs with the potential of improving access, safety, and sustainability of care.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ijpp\/riag147","type":"journal-article","created":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T11:14:29Z","timestamp":1790334869000},"source":"Crossref","is-referenced-by-count":0,"title":["Pharmacist contribution in rare diseases"],"prefix":"10.1093","author":[{"given":"Margaux Jeatrice","family":"Alaba","sequence":"first","affiliation":[{"name":"Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta , Msida, MSD 2080 ,","place":["Malta"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6061-3608","authenticated-orcid":false,"given":"Janis","family":"Vella Szijj","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta , Msida, MSD 2080 ,","place":["Malta"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3811-0761","authenticated-orcid":false,"given":"Lilian M","family":"Azzopardi","sequence":"additional","affiliation":[{"name":"Department of Pharmacy, Faculty of Medicine and Surgery, University of Malta , Msida, MSD 2080 ,","place":["Malta"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2026,10,13]]},"reference":[{"key":"2026101311204789400_ref1","volume-title":"New Scientific Paper Confirms 300 Million People Living with a Rare Disease Worldwide","author":"Rare Diseases International","year":"2019"},{"key":"2026101311204789400_ref2","doi-asserted-by":"publisher","first-page":"914338","DOI":"10.3389\/fphar.2022.914338","article-title":"Valuing the \u201cburden\u201d and impact of rare diseases: a scoping review","volume":"13","author":"Delaye","year":"2022","journal-title":"Front Pharmacol"},{"key":"2026101311204789400_ref3","volume-title":"Life with a Rare Disease","author":"Rare Diseases International"},{"key":"2026101311204789400_ref4","volume-title":"Launch of the National Rare Diseases Campaign \u2013 2 February 2021","author":"National Alliance for Rare Diseases Support Malta","year":"2021"},{"key":"2026101311204789400_ref5","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1038\/s41431-024-01604-z","article-title":"Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a rare barometer retrospective patient survey","volume":"32","author":"Faye","year":"2024","journal-title":"Eur J Hum Genet"},{"key":"2026101311204789400_ref6","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03319-2","article-title":"Time to diagnosis for a rare disease: managing medical uncertainty. 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