Evaluation of orphan drug therapies and associated monitoring guidelines


  • Pandiarasu Bhavadharini Department of Pharmacy Practice, Arulmigu Kalasalingam College of Pharmacy, Tamil Nadu, India
  • Suhaina A. Samath Department of Pharmacology, Sree Mookambika Institute of Medical College, Tamil Nadu, India
  • Jabarulla Mohamed Ali Department of Clinical Research, Medics Research, Tamil Nadu, India




Orphan diseases, Orphan drugs-development, Therapeutic monitoring, Disease severity, Monitoring criteria


Orphan drugs, designed for the treatment and prevention of rare medical conditions known as orphan diseases, are infrequently accessible due to their high costs and limited research. The prevalence of rare diseases varies across countries based on population demographics. The Food and Drug Administration (FDA) has approved over 770 drugs with 77 designations for orphan status. Some of these drugs, often discovered by the pharmaceutical industry, are both highly valuable and expensive. When using orphan drugs, specific parameters need to be monitored. Therapeutic monitoring should align with the patient's physical condition and the severity of the disease. This article aims to comprehensively examine the development of orphan drugs and their monitoring protocols.


Meekings KN, Williams C, Arrowsmith JE. Orphan drug development: an economically viable strategy for biopharma R&D. Drug Discov Today. 2012;17:660-4.

Mincarone P, Leo CG, Sabina S, Sarriá-Santamera A, Taruscio D, Serrano-Aguilar PG, et al. Reimbursed price of orphan drugs: Current strategies and potential improvements. Public Health Genomics. 2017;20:1-8.

Attwood MM, Rask-Andersen M, Schiöth HB. Orphan drugs and their impact on pharmaceutic llied Sci 2010;2:290-9.

Sharma A, Jacob A, Tandon M, Kumar D. Orphan drug: Development trends and strategies. J Pharm Bioallied Sci. 2010;2:290-9.

Fonseca DA, Amaral I, Pinto AC, Cotrim MD. Orphan drugs: major development challenges at the clinical stage. Drug Discov Today. 2019;24:867-72.

Kontoghiorghe CN, Andreou N, Constantinou K, Kontoghiorghes GJ. World health dilemmas: Orphan and rare diseases, orphan drugs and orphan patients. World J Methodol. 2014;4:163-88.

Song P, Gao J, Inagaki Y, Kokudo N, Tang W. Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable Rare Dis Res. 2012;1:3-9.

Thyss A, Saada E, Gastaud L, Peyrade F, Re D. Hodgkin’s Lymphoma in older patients: An orphan disease? Mediterr J Hematol Infect Dis. 2014;6:e2014050.

Carvalho D, Russo P, Bernardes C, Saiote J, Ramos G, Mascarenhas L, et al. Hodgkin’s lymphoma in crohn’s disease treated with infliximab. GE Port J Gastroenterol. 2017;24:279-84.

Innes J, Newall J. Myelomatosis. Lancet. 1961;277:239-45.

Galton DA, Brito-Babapulle F. The management of myelomatosis. Eur J Haematol. 1987;39:385-98.

Suh Y, Gandhi J, Seyam O, Jiang W, Joshi G, Smith NL, Ali Khan S. Neurological and neuropsychiatric manifestations of porphyria. Int J Neurosci. 2019;129(12):1226-33.

Enright H, McGlave P. Bone marrow transplantation for chronic myelogenous leukemia. Curr Opin Oncol. 1998;10:100-7.

Osarogiagbon UR, McGlave PB. Chronic myelogenous leukemia. Curr Opin Hematol. 1999;6:241-6.

Yahata Y, Gotoh A, Komatsu N. Usefulness of BCSH criteria for diagnosing Japanese polycythemia Vera: Comparative analysis with WHO 2008 criteria. Juntendo Med J. 2015;61:287-93.

Marcellino BK, Hoffman R. Recent advances in prognostication and treatment of polycythemia vera. Fac Rev. 2021;10:29.

Basté N, Mora M, Grau JJ. Emerging systemic antitarget treatment for differentiated thyroid carcinoma. Curr Opin Oncol. 2021;33:184-95.

Rafeeq MM, Murad HAS. Cystic fibrosis: current therapeutic targets and future approaches. J Transl Med. 2017;15.

Brown SD, White R, Tobin P. Keep them breathing: Cystic fibrosis pathophysiology, diagnosis, and treatment. JAAPA. 2017;30:23-7.

Jarius S, Paul F, Aktas O, Asgari N, Dale RC, de Seze J, et al. MOG encephalomyelitis: international recommendations on diagnosis and antibody testing. J Neuroinflammation. 2018;15.

Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, et al. Acquired hemophilia A: Updated review of evidence and treatment guidance. Am J Hematol. 2017;92:695-705.

Tiede A, Collins P, Knoebl P, Teitel J, Kessler C, Shima M, et al. International recommendations on the diagnosis and treatment of acquired hemophilia A. Haematologica. 2020;105:1791-801.

Reinhold D, Hemmer B, Gran B, Born I, Faust J, Neubert K, et al. Inhibitors of dipeptidyl peptidase IV/CD26 suppress activation of human MBP-specific CD4+ T cell clones. J Neuroimmunol. 1998;87:203-9.

Dankort D, Curley DP, Cartlidge RA, Nelson B, Karnezis AN, Damsky WE, et al. Braf (V600E) cooperates with Pten loss to induce metastatic melanoma. Nat Genet. 2009;41:544-52.

Wu J, Weisshaar N, Hotz-Wagenblatt A, Madi A, Ma S, Mieg A, et al. Skeletal muscle antagonizes antiviral CD8+ T cell exhaustion. Sci Adv. 2020;6:eaba3458.

Powles RL, Clink HM, Spence D. Cyclosporine A to prevent graft-versus-host disease in man after allogeneic bonemarrow transplantation. Lancet. 1980;1:327-9.

Pacheco R, Lluis C, Franco R. Role of CD26-adenosine deaminase interaction in T cell-mediated immunity. Immunologia. 2005;24:235-45.

Sonenberg N, Hinnebusch AG. Regulation of translation initiation in eukaryotes: Mechanisms and biological targets. Cell. 2009;136:731-45.

Vaccarella S, Franceschi S, Bray F, Wild CP, Plummer M, Dal Maso L. Worldwide thyroid-cancer epidemic? The increasing impact of overdiagnosis. N Engl J Med. 2016;375:614-7.

Tefferi A, Vannucchi AM, Barbui T. Polycythemia vera treatment algorithm 2018. Blood Cancer J. 2018;8.

Davis LE, Booss J. Acute disseminated encephalomyelitis in children: a changing picture. Pediatr Infect Dis J. 2003;22:829-31.

Tencer T, Roberson C, Duncan N, Johnson K, Shapiro A. A haemophilia treatment centre-administered disease management programme in patients with bleeding disorders. Haemophilia. 2007;13:480-8.




How to Cite

Bhavadharini, P., A. Samath, S., & Ali, J. M. (2024). Evaluation of orphan drug therapies and associated monitoring guidelines. International Journal of Basic & Clinical Pharmacology, 13(2), 289–295. https://doi.org/10.18203/2319-2003.ijbcp20240389



Review Articles