{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T16:45:07Z","timestamp":1794069907394,"version":"4.8.0"},"reference-count":183,"publisher":"MDPI AG","issue":"6","license":[{"start":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T00:00:00Z","timestamp":1678233600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Takeda Pharmaceutical Company Limited"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>This document provides a comprehensive summary of evidence on the current situation of rare diseases (RDs) globally and regionally, including conditions, practices, policies, and regulations, as well as the challenges and barriers faced by RD patients, their families, and caregivers. The document builds on a review of academic literature and policies and a process of validation and feedback by a group of seven experts from across the globe. Panelists were selected based on their academic merit, expertise, and knowledge regarding the RD environment. The document is divided into five main sections: (1) methodology and objective; (2) background and context; (3) overview of the current situation and key challenges related to RDs covering six dimensions: burden of disease, patient journey, social impact, disease management, RD-related policies, and research and development; (4) recommendations; and (5) conclusions. The recommendations are derived from the discussion undertaken by the experts on the findings of this review and provide a set of actionable solutions to the challenges and barriers to improving access to RD diagnosis and treatment around the world. The recommendations can support critical decision-making, guiding efforts by a broad range of RDs stakeholders, including governments, international organizations, manufacturers, researchers, and patient advocacy groups.<\/jats:p>","DOI":"10.3390\/ijerph20064732","type":"journal-article","created":{"date-parts":[[2023,3,8]],"date-time":"2023-03-08T02:30:23Z","timestamp":1678242623000},"page":"4732","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":173,"title":["Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges"],"prefix":"10.3390","volume":"20","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5289-5980","authenticated-orcid":false,"given":"Takeya","family":"Adachi","sequence":"first","affiliation":[{"name":"Department of Dermatology, Keio University School of Medicine, Tokyo 160-8582, Japan"},{"name":"Department of Medical Regulatory Science, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan"},{"name":"United Japanese-Researchers Around-the-World (UJA), Isehara 259-1143, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5737-5271","authenticated-orcid":false,"given":"Ayman W.","family":"El-Hattab","sequence":"additional","affiliation":[{"name":"Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah 27272, United Arab Emirates"},{"name":"MENA (Middle East and North Africa) Organization for Rare Diseases, Dubai 500767, United Arab Emirates"},{"name":"Department of Pediatrics, University Hospital Sharjah, Sharjah 72772, United Arab Emirates"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4297-4319","authenticated-orcid":false,"given":"Ritu","family":"Jain","sequence":"additional","affiliation":[{"name":"Dystrophic Epidermolysis Bullosa Research Association (DEBRA), Singapore 059811, Singapore"},{"name":"Asia Pacific Alliance of Rare Disease Organizations (APARDO), Singapore 188976, Singapore"},{"name":"Language and Communication Centre, School of Humanities and Social Sciences, Nanyang Technological University, Singapore 639798, Singapore"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5806-0805","authenticated-orcid":false,"given":"Katya A.","family":"Nogales Crespo","sequence":"additional","affiliation":[{"name":"Policy Wisdom LLC, Quebradillas 00678-2705, Puerto Rico"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camila I.","family":"Quirland Lazo","sequence":"additional","affiliation":[{"name":"Health Technology Assessment Unit, Cancer Research Department, Arturo L\u00f3pez Perez Foundation, Santiago 7500921, Chile"},{"name":"School of Medicine, Universitat Aut\u00f2noma de Barcelona, 080193 Barcelona, Spain"},{"name":"Faculty of Pharmaceutical and Chemical Sciences, University of Chile, Santiago 8380000, Chile"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0382-3251","authenticated-orcid":false,"given":"Maurizio","family":"Scarpa","sequence":"additional","affiliation":[{"name":"European Reference Network for Hereditary Metabolic Diseases (MetabERN), 33100 Udine, Italy"},{"name":"Regional Coordinating Center for Rare Diseases Friuli Venezia Giulia, Udine University Hospital, 33100 Udine, Italy"},{"name":"Brains for Brain Foundation, 35128 Padova, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marshall","family":"Summar","sequence":"additional","affiliation":[{"name":"The Translational Science Training Program, National Institutes of Health (NIH), Maryland, MD 20814, USA"},{"name":"Children\u2019s National Medical Centre, Washington, DC 20010, USA"},{"name":"National Organization for Rare Disorders (NORD), Quincy, MA 02169, USA"},{"name":"Children\u2019s National Rare Disease Institute, Washington, DC 20012, USA"},{"name":"Department of Pediatrics, George Washington University, Washington, DC 20052, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2329-2176","authenticated-orcid":false,"given":"Duangrurdee","family":"Wattanasirichaigoon","sequence":"additional","affiliation":[{"name":"Thai Rare Disease Foundation (ThaiRDF), Bangkok 10230, Thailand"},{"name":"Prader-Willi Syndrome Association (PWSA) of Thailand, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand"},{"name":"Rare Disease Working Committee, Thai National Health Security Office (NHSO), Bangkok 10210, Thailand"},{"name":"Sub-Working Committee for Rare Disease Medicine, Thailand National List of Essential Medicines (NLEM), National Drug Policy Division, Food and Drug Administration, Nonthaburi 11000, Thailand"},{"name":"Medical Genetics Network, Genetics Society of Thailand, Bangkok 10330, Thailand"},{"name":"Thailand Medical Genetics and Genomics Association (TMGGA), Bangkok 10510, Thailand"},{"name":"Asia Pacific Society of Human Genetics (APSHG), Singapore 229899, Singapore"},{"name":"Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, Thailand"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,3,8]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"906","DOI":"10.1016\/j.jval.2015.05.008","article-title":"Rare Disease Terminology and Definitions\u2014A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group","volume":"18","author":"Richter","year":"2015","journal-title":"Value Health"},{"key":"ref_2","unstructured":"National Health Security Office (2022, August 04). 24 Rare Diseases Added to UCS But Challenges Remain [Internet], Available online: 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