Orphan diseases: bridging the global gaps in rare disease care andfuture priorities
- Sumalatha Borancha Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- Priyanka Tatikonda Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- Jyoshna Borancha Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- Subiya Maheen Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- Keerthija Reddy Kommidi Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- Tejasri Mahalaxmi Panala Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
- L Satyanarayana Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India.
-
Mandepudi Lakshmi Chandini
Assistant Professor, Omega College of Pharmacy, Edulabad, Ghatkesar, Hyderabad, Telangana, India - 501301.
chandinimandepudi72@gmail.com
Abstract
Orphan diseases are also referred as rare disease and these are medical conditionsthat effect a small portion of the population.They collectively effectmillions of individuals amongworldwide.Orphandisease is chronic,genetic, andlife-threatening, often demonstration early in life. Typically, fewer than 200,000 peoples in the United States, because of the limited count of patients, there is lack of financial support forpharmaceutical companies to invest in treatment development,and that leads in minimal therapeutic options and research, as a result,these orphan diseases are continuously unconsidered in drug development efforts. Inducesto the supportivepolicieslike the orphan drugs Act introduction. Examples of orphan disease types; genetic disorders, autoimmune diseases, rare cancer, metabolic disorders, infection disease. Characteristics of orphan disease which includeslowprevalence,high mortality and morbidity, complex and often unexplained and need for orphan drug development. This article delivers an overview of orphan disease, examples, treatment, impact on patients and families, challenges in treatment and diagnosis, future direction.
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References
2. Uzma Sultana, Varada Bala Gnana Laxmi, Mahaboobi, Narender Boggula. Orphan Drugs and Rare Diseases - A Review. Pharmaceutical Sciences. 2024; 4(1):27-33.
3. Sirbu CA, Ivan R, Authier FJ, Ionita-Radu F, Jianu DC, Vasiliu O, Constantin C, Tuță S. Orphan Drugs in Neurology-A Narrative Review. J Pers Med. 2023;13(3):420.
4. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28(2):165-173.
5. Grob D, BrunnerN, Namba T, Pagala M. Lifetime course of myasthenia gravis. Neurology. 2008; 71(10):789–795.
6. Ghedira K, Kouidhi S, Hamdi Y, Othman H, Kechaou S, Znaidi S, Haïtham S, Rabhi I. Pathway Maps of Orphan and Complex Diseases Using an Integrative Computational Approach. Biomed Res Int. 2020;2020:4280467.
7. Gimenez-Lozano C, Páramo-Rodríguez L, Cavero-Carbonell C, Corpas-Burgos F, López-Maside A, Guardiola-Vilarroig S, Zurriaga O. Rare Diseases: Needs and Impact for Patients and Families: A Cross-Sectional Study in the Valencian Region, Spain. Int J Environ Res Public Health. 2022;19(16):10366.
8. Sreelatha Gangu, Varada Bala Gnana Laxmi, Sitawar Anusha, Akshay Rathod, Rama Rao Tadikonda, Narender Boggula. Genotoxic Impurities from Pharmaceutical Drugs–A Review. International Journal of Pharmaceuticals and Health Care Research. 2024; 1022):130-143.
9. Belzer LT, Wright SM, Goodwin EJ, Singh A & Carter BS. Psychosocial considerations for the child with rare disease: A review with recommendations and calls to action. Children. 2022; 9(7):933.
10. Atkins JC, Padgett CR. Living with a Rare Disease: Psychosocial Impacts for Parents and Family Members - a Systematic Review. Journal of Child and Family Studies. 2024; 33(2):617–636.
11. Gunes D, Karaca M, Durmus A, Ak B, Aktay Ayaz N, Altınel ZU, Aslanger AD, Atalar F, Balci MC, Bilgin L, Darendeliler F, Demirkol D, Durmaz O, Gedikbasi A, Inan Balci E, Ince EZ, Karadag SG, Keskindemirci G, Nisli K, Ozcetin M, Somer A, Unuvar A, Uysalol M, Yildiz E, Yuruk Yildirim ZN, Demirkol M, Gokcay GF. Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions. Eur J Pediatr. 2025;184(5):281.
12. Kamusheva M, Milushewa P. Rare disease patients’ needs: an up‑to‑date analysis and future directions. Pharmacia. 2021; 68(4):763–770.
13. Groft SC, Posada de la Paz M. Preparing for the future of rare diseases. Advances in Experimental Medicine and Biology.2017; 1031:641–648.
14. Goyal PK, Sangwan K. Pharmacological profile of FDA‑approved orphan drugs in the year 2022. Current Pharmacology Reports. 2024; 10(2):96–120.
15. Barrett JS, Betourne A, Walls RL, Lasater K, Russell S, Borens A, RohatagiS, Roddy W. The future of rare disease drug development: The rare disease cures accelerator data analytics platform (RDCA‑DAP). Journal of Pharmacokinetics and Pharmacodynamics. 2023; 50(6):507–519.
16. Loizzo A, Tebano MT. Orphan diseases. Recenti Prog Med. 1993; 84(11):786-793.
17. Hennemann A. Orphan drugs. Drugs for treatment of rare diseases. Med Monatsschr Pharm. 2004; 27(8):256-259.
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