Drug Repurposing for Orphan Disease
DOI:
https://doi.org/10.64261/s49q9c13Keywords:
Repurposing Orphan drugs, reprofiling, neurodegenerativeAbstract
There is a great need and opportunity to find treatments for orphan or rare diseases. Of the roughly 6000 orphan diseases, some have little commercial prospects and/or low prevalence. Many chemicals have the potential to be reprofiled in a new indication, even if only a small number of compounds have been licensed for new indications in the field of metabolic diseases. In general, there are three categories into which reprofiled medications for metabolic diseases can be divided. Drug repurposing is the term used to describe the current change in focus to alternative uses for costly new medications. The discovery of novel therapeutic uses for already available or experimental medications is known as drug repurposing or reprofiling. Numerous potentially fatal illnesses, including some types of cancer, neurological problems, immunological disorders, and rare infectious diseases, may benefit from this idea and innovative treatment methods. Numerous potentially fatal illnesses, including some types of cancer, neurological problems, immunological disorders, and rare infectious diseases, may benefit from this idea and innovative treatment methods.
References
[1] S. Pushpakom, F. Iorio, P.A. Eyers, K.J. Escott, S. Hopper, A. Wells, A. Doig, T. Guilliams, J. Latimer, C. McNamee, A. Norris, P. Sanseau D. Cavalla, M. Pirmohamed, Drug repurposing: progress, challenges and recommendations, Nat. Rev. Drug Discover,18 (2018) 41-58, https://doi.org/10.1038/nrd.2018.16.
[2] Ferreira CR. The burden of rare diseases. Am J Med Genet A. 2019; 179:885-92. doi: 10.1002/ajmg.a.61124.
[3] Cremers S, Aronson JK. Drugs for rare disorders. Br J Clin Pharmacol. 2017; 83(8): 1607-1613. 6 Ministry of Health, Labour and Welfare of Japan. Designated Intractable Diseases (in Japanese). Ministry of Health, Labour and Welfare of Japan.
[4] J.L. Dahlin, D.S. Auld, I. Rothenaigner, S. Haney, J.Z. Sexton, J.W.M. Nissinket al., Nuisance compounds in cellular assays, Cell Chem Biol 28 (2021) 356–370. 7 J.C. Saiz, M.A. Martín-Acebes, The race to find antivirals for zika virus, Antimicrob Agents Chemother 61 (2017) e00411–e417.
[5] M.S. Kinch et al.Lost medicines: a longer view of the pharmaceutical industry with the potential to reinvigorate discovery Drug Discover Today (2019)
[6] Kulkarni NS et al. (2019) Tyrosine kinase inhibitor conjugated quantum dots for non-small cell lung cancer (NSCLC) treatment. Eur. J. Pharm. Sci. 133, 145–159 [PubMed: 30946965]
[7] Pahud D et al. (2014) A new market access path for repurposed drugs. Available at:2014 In: https://www.kauffman.org/what-we-do/research/2014/05/a-new-market-access-path-for-repurposed-drugs
[8] Kulkarni, V. S., Alagarsamy, V., Solomon, V. R., Jose, P. A., & Murugesan, S. (2023). Drug repurposing: an effective tool in modern drug discovery. Russian journal of bioorganic chemistry, 49(2), 157-166.
[9] Musyuni, P., Sharma, R., & Aggarwal, G. (2023). Optimizing drug discovery: An opportunity and application with reverse translational research. Health Sciences Review, 6, 100074.
[10] Chen, K., Lim, T. P., Yuen, J. S., Ho, H., & Murphy, D. G. (2025). Regulatory considerations for new drugs and devices. In Translational Urology (pp. 293-299). Academic Press.
[11] Zajki-Zechmeister, T. (2022). A regulatory guide for medical device start-ups in Europe: challenges and pitfalls. In Medical Devices and In Vitro Diagnostics: Requirements in Europe (pp. 1-25). Cham: Springer International Publishing.
[12] Aartsma-Rus, A., Dooms, M., & Le Cam, Y. (2021). Orphan medicine incentives: how to address the unmet needs of rare disease patients by optimizing the European orphan medicinal product landscape guiding principles and policy proposals by the European expert group for orphan drug incentives (OD expert group). Frontiers in pharmacology, 12, 744532.
[13] Dang, K. X. (2026). Death By A Thousand Cuts: Patent Litigation Risks and their Chilling Effects on Pharmaceutical Investments and Innovation in the United States. Houston Journal of Health Law & Policy, 25(2).
[14] Harper, P. (2019). The evolution of medical genetics: a British perspective. CRC Press.
[15] Ranganath, L. R., Psarelli, E. E., Arnoux, J. B., Braconi, D., Briggs, M., Bröijersén, A., ... & Gallagher, J. A. (2020). Efficacy and safety of once-daily nitisinone for patients with alkaptonuria (SONIA 2): an international, multicentre, open-label, randomised controlled trial. The Lancet Diabetes & Endocrinology, 8(9), 762-772.
[16] Genovese F, Frederiksen P, Bay-Jensen A-C, et al. Nitisinone treatment affects biomarkers of bone and cartilage remodelling in alkaptonuria patients. Int J Mol Sci. 2023;24(13):10996
[17] Previtali R, Prontera G, Alfei E, et al. Paradigm shift in the treatment of tuberous sclerosis: effectiveness of everolimus. Pharmacol Res. 2023,195:106884.
[18] Britti, E., Delaspre, F., Feldman, A., Osborne, M., Greif, H., Tamarit, J., et al. (2018). Frataxin-deficient Neurons and Mice Models of Friedreich Ataxia Are Improved by TAT-MTScs-FXN Treatment. J. Cel Mol Med 22, 834–848. doi:10.1111/jcmm.13365 Buyse, G., Mertens, L., Di Salvo, G., Matthijs, I., Weidemann, F., Eyskens, B., et al. (2003). Idebenone Treatment in Friedreich’s Ataxia: Neurological, Cardiac, and Biochemical Monitoring. Neurology 60, 1679–1681. doi:10.1212/ 01.wnl.0000068549.52812.0f
[19] Krishnamurthy N, Grimshaw AA, Axson SA, et al. Drug repurposing: a systematic review on root causes, barriers and facilitators. BMC Health Serv Res. 2022;22(1):970.
[20] De Rosa MC, Purohit R, García-Sosa AT. Drug repurposing: a nexus of innovation, science, and potential. Sci Rep. 2023;13(1):17887
[21] Mayack BK, Sippl W. Current In silico drug repurposing strategies. Syst Med. 2021;257–68
[22] De Simone G. Sardina DS, Gulotta MR, Perricone U. KUALA: a machine learning-driven framework for kinase inhibitors repositioning. Sci Rep. 2022;12(1):17877.
Downloads
Published
Issue
Section
Categories
- Clinical and Biomedical Sciences
- Ethics, Equity, and Social Justice in Health
- Health Systems and Policy
- Indigenous Knowledge and Culture
- Mental Health and Psychological Wellbeing
- Psychosocial and Behavioral Sciences
- Public Health
- Trauma, Conflict, and Humanitarian Health
- Pharmaceutical and Therapeutic Sciences
License
Copyright (c) 2026 Pan-African Journal of Health and Psychological Sciences

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
All articles published in the Pan-African Journal of Health and Psychological Sciences (PAJHPS) are open access and distributed under the terms of the Creative Commons Attribution 4.0 International License (CC BY 4.0).
Under this license:
-
Authors retain copyright and grant the journal the right of first publication.
-
The work may be shared, copied, redistributed, and adapted for any purpose, even commercially.
-
Appropriate credit must be given to the original author(s) and the journal, along with a link to the license.
-
Users must indicate if changes were made.
-
There are no restrictions on reuse, provided the original work is properly cited.
Citation:
Authors and users must cite the original work in the following manner:
Author(s). (Year). Title of the article. Pan-African Journal of Health and Psychological Sciences, Volume(Issue), page range. https://doi.org/xx.xxxx/pajhps.vXnY.xxx
Copyright Statement:
Authors grant PAJHPS a non-exclusive license to publish the work and identify itself as the original publisher. Authors may enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version (e.g., post it to a repository or publish it in a book), with acknowledgment of its initial publication in this journal.