Orphan Drugs in Neurology—A Narrative Review
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....
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | Journal of Personalized Medicine |
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| Online Access: | https://www.mdpi.com/2075-4426/13/3/420 |
| _version_ | 1797610805881995264 |
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| author | Carmen Adella Sirbu Raluca Ivan Francois Jerome Authier Florentina Ionita-Radu Dragos Catalin Jianu Octavian Vasiliu Ciprian Constantin Sorin Tuță |
| author_facet | Carmen Adella Sirbu Raluca Ivan Francois Jerome Authier Florentina Ionita-Radu Dragos Catalin Jianu Octavian Vasiliu Ciprian Constantin Sorin Tuță |
| author_sort | Carmen Adella Sirbu |
| collection | DOAJ |
| description | 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 10–15 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’s associations for rare diseases, have led to the discovery of new treatments and useful future findings. |
| first_indexed | 2024-03-11T06:19:15Z |
| format | Article |
| id | doaj.art-7cda57f4dddd4553a5cf6559905630d2 |
| institution | Directory Open Access Journal |
| issn | 2075-4426 |
| language | English |
| last_indexed | 2024-03-11T06:19:15Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Journal of Personalized Medicine |
| spelling | doaj.art-7cda57f4dddd4553a5cf6559905630d22023-11-17T12:02:06ZengMDPI AGJournal of Personalized Medicine2075-44262023-02-0113342010.3390/jpm13030420Orphan Drugs in Neurology—A Narrative ReviewCarmen Adella Sirbu0Raluca Ivan1Francois Jerome Authier2Florentina Ionita-Radu3Dragos Catalin Jianu4Octavian Vasiliu5Ciprian Constantin6Sorin Tuță7Department of Neurology, ‘Dr. Carol Davila’ Central Military Emergency University Hospital, 010242 Bucharest, RomaniaDepartment of Neurology, ‘Dr. Carol Davila’ Central Military Emergency University Hospital, 010242 Bucharest, RomaniaINSERM U955-Team Relaix, Faculty of Health, Paris Est-Creteil University, 94010 Créteil, FranceDepartment of Gastroenterology, “Carol Davila” Central Military Emergency University Hospital, 010825 Bucharest, RomaniaCentre for Cognitive Research in Neuropsychiatric Pathology (Neuropsy-Cog), Department of Neurology, Faculty of Medicine, “Victor Babeș” University of Medicine and Pharmacy, 300041 Timisoara, RomaniaDepartment of Psychiatry, ‘Dr. Carol Davila’ Central Military Emergency University Hospital, 010825 Bucharest, RomaniaDepartment of Diabetes, Nutrition, and Metabolic Diseases, Titu Maiorescu University, 031593 Bucharest, RomaniaClinical Neurosciences Department, University of Medicine and Pharmacy “Carol Davila” Bucharest, 050474 Bucharest, RomaniaBackground 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 10–15 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’s associations for rare diseases, have led to the discovery of new treatments and useful future findings.https://www.mdpi.com/2075-4426/13/3/420orphan diseasesspinal muscular atrophymyastheniafabry diseaseacute hepatic porphyrianon-dystrophic myotonias |
| spellingShingle | Carmen Adella Sirbu Raluca Ivan Francois Jerome Authier Florentina Ionita-Radu Dragos Catalin Jianu Octavian Vasiliu Ciprian Constantin Sorin Tuță Orphan Drugs in Neurology—A Narrative Review Journal of Personalized Medicine orphan diseases spinal muscular atrophy myasthenia fabry disease acute hepatic porphyria non-dystrophic myotonias |
| title | Orphan Drugs in Neurology—A Narrative Review |
| title_full | Orphan Drugs in Neurology—A Narrative Review |
| title_fullStr | Orphan Drugs in Neurology—A Narrative Review |
| title_full_unstemmed | Orphan Drugs in Neurology—A Narrative Review |
| title_short | Orphan Drugs in Neurology—A Narrative Review |
| title_sort | orphan drugs in neurology a narrative review |
| topic | orphan diseases spinal muscular atrophy myasthenia fabry disease acute hepatic porphyria non-dystrophic myotonias |
| url | https://www.mdpi.com/2075-4426/13/3/420 |
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