{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T16:40:53Z","timestamp":1787071253709,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"2","license":[{"start":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T00:00:00Z","timestamp":1763510400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:p>Rare diseases, though individually infrequent, collectively affect over 300 million people worldwide. The development of orphan drugs to treat these conditions is hampered by regulatory inconsistencies, high costs, and limited clinical trial populations. To systematically review the current landscape of orphan drugs and rare diseases, focusing on definitions, therapeutic approaches, health economic evaluations, and stakeholder perspectives. A systematic review was conducted using 70 reference-screened articles, out of which 10 were selected based on relevance to rare diseases or orphan drug policy, economics, or clinical management. Study types included systematic and scoping reviews, observational studies, and health economic evaluations. Data extraction focused on definitions, healthcare roles, cost analyses, and clinical outcomes. Definitions of rare diseases varied globally, impacting drug approval processes. Economic evaluations revealed disparities in funding orphan drugs. Studies emphasized the growing role of pharmacists and stakeholders in therapeutic access. High-cost burdens, ethical considerations, and diagnostic advancements were recurring themes. Pediatric and syndromic rare conditions, like Duchenne muscular dystrophy and Turner syndrome, were notably covered. Effective rare disease care requires harmonized definitions, ethical pricing models, interdisciplinary healthcare roles, and evidence-based policies to ensure equitable access and sustainability.<\/jats:p>","DOI":"10.4103\/jpbs.jpbs_937_25","type":"journal-article","created":{"date-parts":[[2025,11,19]],"date-time":"2025-11-19T16:00:40Z","timestamp":1763568040000},"page":"93-95","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Orphan Drugs and Diseases: A Systematic Review"],"prefix":"10.4103","volume":"18","author":[{"given":"Heena Dixit","family":"Tiwari","sequence":"first","affiliation":[{"name":"Department of Hospital Administration, Malwanchal University, Indore, Madhya Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manoj Kumar","family":"Sahoo","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, Government Medical College and Hospital, Sundargarh, Odisha, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. R","family":"Murali","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, JSS Academy of Higher Education and Research, Mysore, Karnataka, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rahul","family":"Tiwari","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, RKDF Dental College and Research Centre, Sarvepalli Radhakrishnan University, Bhopal, Madhya Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kamatham","family":"Manjusha","sequence":"additional","affiliation":[{"name":"BDS, Mansarovar Dental College, Bhopal, Madhya Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M. C.","family":"Prashant","sequence":"additional","affiliation":[{"name":"Department of Oral and Maxillofacial Surgery, RKDF Dental College and Research Centre Bhopal, Madhya Pradesh, India"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2025,11,19]]},"reference":[{"key":"R1-20260330","doi-asserted-by":"crossref","first-page":"e062126","DOI":"10.1136\/bmjopen-2022-062126","article-title":"Criteria to define rare diseases and orphan drugs: A systematic review protocol","volume":"12","author":"Abozaid","year":"2022","journal-title":"BMJ Open"},{"key":"R2-20260330","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1007\/s12325-022-02359-z","article-title":"Valuation of treatments for rare diseases: A systematic literature review of societal preference studies","volume":"40","author":"Dabbous","year":"2023","journal-title":"Adv Ther"},{"key":"R3-20260330","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1177\/09514848231151814","article-title":"High-cost drugs for rare diseases: Their expenditure and value based on a regional area-based study","volume":"37","author":"Manea","year":"2024","journal-title":"Health Serv Manage Res"},{"key":"R4-20260330","doi-asserted-by":"crossref","first-page":"e072001","DOI":"10.1136\/bmjopen-2023-072001","article-title":"Role of pharmacists in the context of rare diseases: A scoping review protocol","volume":"13","author":"Cunico","year":"2023","journal-title":"BMJ Open"},{"key":"R5-20260330","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1186\/s13643-019-0999-3","article-title":"Differential methylation in rare ophthalmic disorders: A systematic review protocol","volume":"8","author":"Kerr","year":"2019","journal-title":"Syst Rev"},{"key":"R6-20260330","doi-asserted-by":"crossref","first-page":"e025801","DOI":"10.1136\/bmjopen-2018-025801","article-title":"Healthcare professionals\u2019, students\u2019, patients\u2019 and donors\u2019 perceptions of stem cell research and therapy: A systematic review protocol","volume":"9","author":"Shaw","year":"2019","journal-title":"BMJ Open"},{"key":"R7-20260330","doi-asserted-by":"crossref","first-page":"e060300","DOI":"10.1136\/bmjopen-2021-060300","article-title":"Cognitive functioning and work-related outcomes of non-central nervous system cancer survivors: Protocol for a systematic review with meta-analysis","volume":"12","author":"Oliveira","year":"2022","journal-title":"BMJ Open"},{"key":"R8-20260330","doi-asserted-by":"crossref","first-page":"e029341","DOI":"10.1136\/bmjopen-2019-029341","article-title":"Effectiveness of pharmacological treatments in Duchenne muscular dystrophy: A protocol for a systematic review and meta-analysis","volume":"9","author":"Pascual Morena","year":"2019","journal-title":"BMJ Open"},{"key":"R9-20260330","doi-asserted-by":"crossref","first-page":"e037478","DOI":"10.1136\/bmjopen-2020-037478","article-title":"Strength of the association between Turner syndrome and coeliac disease: Protocol for a systematic review and meta-analysis","volume":"10","author":"Al-Bluwi","year":"2020","journal-title":"BMJ Open"},{"key":"R10-20260330","doi-asserted-by":"crossref","first-page":"e056848","DOI":"10.1136\/bmjopen-2021-056848","article-title":"Does completion of radical hysterectomy improve oncological outcomes of women with clinical early-stage cervical cancer and intraoperative detection of nodal involvement?: Protocol for a systematic review and meta-analysis","volume":"12","author":"Hu","year":"2022","journal-title":"BMJ Open"}],"container-title":["Journal of Pharmacy and Bioallied Sciences"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jpbs.jpbs_937_25","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:43:42Z","timestamp":1787067822000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jpbs.jpbs_937_25"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,19]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.4103\/jpbs.jpbs_937_25","relation":{},"ISSN":["0976-4879","0975-7406"],"issn-type":[{"value":"0976-4879","type":"print"},{"value":"0975-7406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,19]]},"assertion":[{"value":"2025-05-16","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-24","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}