Archive

Abstract

Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients waiting 5 to 30 years for one. Living with a rare disease is a challenge and the lack of diagnosis -either because one exists but has not been identified for a particular patient or because the patient has a “syndrome without a name” (SWAN) -is a cause of extreme stress for patients and their families. A recent calculation of the cumulative prevalence at a global level based on the Orphanet epidemiology data file estimates that, regarding the 2017 population, there is a minimum prevalence of 3.5–5.9?fected worldwide. The problem is that each of those patients has a condition that they share with only a small number of individuals locally and sometimes even globally. For this reason, it is difficult to ensure that patients can access the right medical expertise as doctors seldom see such cases, and this fact contributes to a delay in diagnosis. It is essential to raise awareness of patients and clinicians of existing gene and variant-specific therapeutics at the time of diagnosis to avoid that treatment delays add up to the diagnostic odyssey of rare diseases’ patients and their families.

Keywords

Orphan, epidemiology, genetically, Orphanet, diagnosis

Reference

  1. Peipei Song, Jianjun Gao, Yoshinori Inagaki, Norihiro Kokudo, Wei Tang. Rare diseases, orphan drugs, and their regulation in Asia: Current status and future perspectives. Intractable & Rare Diseases Research. 2012; 1(1):3-9.
  2. Report on Orphan Drugs in the Pipeline- presented by america's biopharmaceutical research companies. Available at: http://phrma-docs.phrma.org/sites/default /files/pdf/Rare_Diseases_2013.pdf. (access date 2-5-2023)
  3. Duraiswamy Navaneetham PhD. Rare Diseases and Disorders- Estimated rare diseases population in South Asian countries . Available at: http://www.rarediseasesindia.org.
  4. Rare diseases and orphan drugs J K Aronson Chairman of the Editorial Board, British Journal of Clinical Pharmacology, Br J Clin Pharmacol. 2006 Mar; 61(3): 243–245
  5. Lavandeira A. Orphan drugs: legal aspects, current situation. Haemophilia. 2002;8(3):194–198. [PubMed] [Google Scholar]
  6. National Organization for Rare Disorders. [26 January 2006]. http://www.rarediseases.org/search/rdblist.html.
  7. Office of Rare Diseases. National Institutes of Health. Rare diseases terms. [26 January 2006]. http://rarediseases.info.nih.gov/asp/diseases/diseases.asp?this=Z#toplist.
  8. Hift RJ, Meissner PN. An analysis of 112 acute porphyric attacks in Cape Town, South Africa: evidence that acute intermittent porphyria and variegate porphyria differ in susceptibility and severity. Medicine (Baltimore) 2005;84(1):48–60. [PubMed] [Google Scholar]
  9. Haffner ME, Whitley J, Moses M. Two decades of orphan product development. Nat Rev Drug Discov. 2002;1(10):821–825. [PubMed] [Google Scholar]
  10. Lavandeira A. Orphan drugs: Legal aspects, current situation. Haemophilia 2002;8:194-198.
  11. Campos-Castello J. Orphan drugs and orphan diseases. Rev Neurol 2001;33:216-220.
  12. Loizzo A, Tebano MT. Orphan diseases. Recenti Prog Med 1993;84:786-793.
  13. Yamamoto T. Latent Adrenal Insufficiency: Concept, Clues to Detection, and Diagnosis. Endocr Pract. 2018 Aug;24(8):746-755. [PubMed]
  14. Choudhury S, Meeran K. Glucocorticoid replacement in Addison disease. Nat Rev Endocrinol. 2018 Sep;14(9):562. [PubMed]
  15. Addison’s Disease | ORD India
  16. Burton C, Cottrell E, Edwards J. Addison's disease: identification and management in primary care. Br J Gen Pract. 2015 Sep;65(638):488-490. [PMC free article] [PubMed]
  17. Munir S, Quintanilla Rodriguez BS, Waseem M. Addison Disease. [Updated 2022 Aug 7]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK441994/
  18. (https://ordindia.in/angelman-syndrome/)
  19. Sinha JK, Ghosh S, Raghunath M. Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014 May;139(5):667-674. PMID: 25027075; PMCID: PMC4140030.
  20. Baumgart DC, Sandborn WJ. Inflammatory bowel disease: clinical aspects and established and evolving treatments. The Lancet. 2007;369(9573):1641–1657. [PubMed] [Google Scholar]
  21. Gryboski JD. Ulcerative colitis in children 10 years old or younger. J Pediatr Gastroenterol Nutr. 1993;17:24–31. [PubMed] [Google Scholar]
  22. McGovern MM, Desnick RJ. Lysosomal storage diseases. Cecil Textbook of Medicine. In: Goldman L, editor. 21st ed. St. Louis: W.B. Saunders Company; 2000. pp. 1104–1107. [Google Scholar]
  23. Thadhani R, Wolf M, West ML, Tonelli M, Ruthazer R, Pastores GM, et al. Patients with Fabry disease on dialysis in the United States. Kidney Int. 2002;61:249–255. [PubMed] [Google Scholar]
  24. Wani MM, Khan I, Bhat RA, Ahmad M. Fabry's Disease: Case Series and Review of Literature. Ann Med Health Sci Res. 2016 May-Jun;6(3):193-197. doi: 10.4103/2141-9248.183935. PMID: 27398254; PMCID: PMC4924496

Photo
Shweta P. Manapure
Corresponding author

Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110

Photo
Jayshree R. Khade
Co-author

Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110

Photo
Vaibhav P. Uplanchiwar
Co-author

Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110

Photo
Vinod M. Thakare
Co-author

Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110

Photo
Tamanna B. Barve
Co-author

Nagpur College of Pharmacy, Wanadongri, Hingna Road, Nagpur, Maharashtra, India - 441110

Shweta P. Manapure*, Jayshree R. Khade, Vaibhav P. Uplanchiwar, Vinod M. Thakare, Tamanna B. Barve, Review On : Orphan Diseases And Treatment, Int. J. in Pharm. Sci., 2023, Vol 1, Issue 5, 248-256. https://doi.org/10.5281/zenodo.7955377

More related articles
Evaluation Of Antimitotic Activity of Phytochemica...
Preethi Chavan, Amtul H Gazala, Juwaria Begum, Sadiyah Sultana, S...
Tinospora Cordifolia – As An Anticancer Agent: ...
Arpita R. Pawar, Ashwini T. Chougule, Jaya R. Kamble, Pritam Salo...
Quality Effectiveness Assessment Study On Diffrent...
Bhavna Chandnani , Sheikh Fiza, Suraj Rajput, Vikram Pandya, Chau...
Pharmacognostic Studies, Phytochemical Screening And Physicochemical Analysis Of...
Munish choudhary , Dev Prakash Dahiya, Chinu Kumari , Bhopesh Kumar, Anita, Dinesh Kumar Thakur, ...
Safety And Efficacy Of Diuretics With Reduced Ejection Fraction In Heart Failure...
G. Anjani Tejaswi, P. Shaheera, A. Navya Sree, M. Bala Tripura Sundari, P. Seetaramayya, Velaga Mahe...
Review On: Alternative Natural Treatment For Psoriasis...
Gayatri vikram salunke, A D khajekar, A K Hatkar , R M kawade, ...
Related Articles
Hepatoprotective Role of Flavonoids from Ocimum Sanctum Against Halothane Induce...
Suddagoni Santhosh, Narsapuram Bharathi, Thalla Likesh Goud, Gunisetti Sri Anjali, Pitla Maheshwari,...
Epidemiology And Mechanisms Of Hepatocellular Carcinoma (Liver Cancer) – A Com...
Ch. Lakshmi Nandini, K.G. Rajya Lakshmi, S. K. Saleem, T. Usha Kiran Reddy, Ch. Apparao , ...
An Evaluation On Medicinal Plant Practice For Management Of Diabetes: A Short Re...
Saurabh T. Shinde, Arun D. Shinde, Pritam S. Shinde, Shravani J. Shinde, Vaishnavi T. Shinde, Vinod ...
A Comprehensive Overview Of HPLC Method Development And Validation...
Sayali V. Ganjiwale, A. P. Dewani, A. V. Chandewar, ...
Evaluation Of Antimitotic Activity of Phytochemicals Present In Extracts Of Cost...
Preethi Chavan, Amtul H Gazala, Juwaria Begum, Sadiyah Sultana, Syeda M Noorain, Tashveen Begum, ...
More related articles
Evaluation Of Antimitotic Activity of Phytochemicals Present In Extracts Of Cost...
Preethi Chavan, Amtul H Gazala, Juwaria Begum, Sadiyah Sultana, Syeda M Noorain, Tashveen Begum, ...
Tinospora Cordifolia – As An Anticancer Agent: Recent And Advance Study...
Arpita R. Pawar, Ashwini T. Chougule, Jaya R. Kamble, Pritam Salokhe, Nilesh B. Chougule, ...
Quality Effectiveness Assessment Study On Diffrent Brands Of Paracetamol Tablet ...
Bhavna Chandnani , Sheikh Fiza, Suraj Rajput, Vikram Pandya, Chaudhry komal, Patel Bhoomi, Kapadia K...
Evaluation Of Antimitotic Activity of Phytochemicals Present In Extracts Of Cost...
Preethi Chavan, Amtul H Gazala, Juwaria Begum, Sadiyah Sultana, Syeda M Noorain, Tashveen Begum, ...
Tinospora Cordifolia – As An Anticancer Agent: Recent And Advance Study...
Arpita R. Pawar, Ashwini T. Chougule, Jaya R. Kamble, Pritam Salokhe, Nilesh B. Chougule, ...
Quality Effectiveness Assessment Study On Diffrent Brands Of Paracetamol Tablet ...
Bhavna Chandnani , Sheikh Fiza, Suraj Rajput, Vikram Pandya, Chaudhry komal, Patel Bhoomi, Kapadia K...