{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:52:16Z","timestamp":1787028736540,"version":"build-2736575974"},"reference-count":93,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2023,2,26]],"date-time":"2023-02-26T00:00:00Z","timestamp":1677369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>Background and aims: Orphan diseases, or rare diseases, are defined in Europe as diseases that affect less than 5 out of every 10,000 citizens. Given the small number of cases and the lack of profit potential, pharmaceutical companies have not invested much in the development of possible treatments. However, over the last few years, new therapies for rare diseases have emerged, giving physicians a chance to offer personalized treatment. With this paper, we aim to present some of the orphan neurological diseases for which new drugs have been developed lately. Methods: We have conducted a literature review of the papers concerning rare diseases and their treatment, and we have analyzed the existing studies for each orphan drug. For this purpose, we have used the Google Scholar search engine and the Orphanet. We have selected the studies published in the last 15 years. Results. Since the formation of the National Organization for Rare Diseases, the Orphan Drug Act, and the National Institutes of Health Office of Rare Diseases, pharmacological companies have made a lot of progress concerning the development of new drugs. Therefore, diseases that until recently were without therapeutic solutions benefit today from personalized treatment. We have detailed in our study over 15 neurological and systemic diseases with neurological implications, for which the last 10\u201315 years have brought important innovations regarding their treatment. Conclusions: Many steps have been taken towards the treatment of these patients, and the humanity and professionalism of the pharmaceutical companies, along with the constant support of the patient\u2019s associations for rare diseases, have led to the discovery of new treatments and useful future findings.<\/jats:p>","DOI":"10.3390\/jpm13030420","type":"journal-article","created":{"date-parts":[[2023,2,27]],"date-time":"2023-02-27T03:23:36Z","timestamp":1677468216000},"page":"420","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Orphan Drugs in Neurology\u2014A Narrative Review"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1982-1066","authenticated-orcid":false,"given":"Carmen Adella","family":"Sirbu","sequence":"first","affiliation":[{"name":"Department of Neurology, \u2018Dr. Carol Davila\u2019 Central Military Emergency University Hospital, 010242 Bucharest, Romania"},{"name":"Centre for Cognitive Research in Neuropsychiatric Pathology (Neuropsy-Cog), Department of Neurology, Faculty of Medicine, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Clinical Neurosciences Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d Bucharest, 050474 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raluca","family":"Ivan","sequence":"additional","affiliation":[{"name":"Department of Neurology, \u2018Dr. Carol Davila\u2019 Central Military Emergency University Hospital, 010242 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francois Jerome","family":"Authier","sequence":"additional","affiliation":[{"name":"INSERM U955-Team Relaix, Faculty of Health, Paris Est-Creteil University, 94010 Cr\u00e9teil, France"},{"name":"Neuromuscular Reference Center, Henri Mondor University Hospital, APHP, 94000 Cr\u00e9teil, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florentina","family":"Ionita-Radu","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, \u201cCarol Davila\u201d Central Military Emergency University Hospital, 010825 Bucharest, Romania"},{"name":"Department of Gastroenterology, \u201cCarol Davila\u201d University of Medicine and Pharmacy, 020021 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7827-818X","authenticated-orcid":false,"given":"Dragos Catalin","family":"Jianu","sequence":"additional","affiliation":[{"name":"Centre for Cognitive Research in Neuropsychiatric Pathology (Neuropsy-Cog), Department of Neurology, Faculty of Medicine, \u201cVictor Babe\u0219\u201d University of Medicine and Pharmacy, 300041 Timisoara, Romania"},{"name":"Neurology Department, Victor Babe\u0219 University of Medicine and Pharmacy, 300041 Timisoara, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Octavian","family":"Vasiliu","sequence":"additional","affiliation":[{"name":"Department of Psychiatry, \u2018Dr. Carol Davila\u2019 Central Military Emergency University Hospital, 010825 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3355-5048","authenticated-orcid":false,"given":"Ciprian","family":"Constantin","sequence":"additional","affiliation":[{"name":"Department of Diabetes, Nutrition, and Metabolic Diseases, Titu Maiorescu University, 031593 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sorin","family":"Tu\u021b\u0103","sequence":"additional","affiliation":[{"name":"Clinical Neurosciences Department, University of Medicine and Pharmacy \u201cCarol Davila\u201d Bucharest, 050474 Bucharest, Romania"},{"name":"Department of Neurology, National Institute of Neurology and Neurovascular Diseases, 041914 Bucharest, Romania"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,26]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"260","DOI":"10.3399\/bjgp20X709853","article-title":"A quick reference guide for rare disease: Supporting rare disease management in general practice","volume":"70","author":"Crowe","year":"2020","journal-title":"Br. 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