Orphan drugs are rarely mentioned, and it may be rare to hear about these whether during school or throughout your career. Orphan drugs are medicine designated to treat extremely rare diseases, conveniently termed orphan diseases. However, rare as they are, it does not signify that we can just brush these conditions aside. 

Low prevalence diseases

Orphan diseases are defined by the U.S. NIH Office of Rare Diseases Research as those conditions that affect less than 200,000 people in the United States at any one time. Many other rare diseases – termed "ultra-orphan" diseases – have an even lower prevalence of less than 10,000 in the U.S population (1,2). For example, Gaucher’s disease, Pompe disease and Niemann-Pick disease all belong to the latter definition. In Malaysia, the government has not produced an official definition of orphan disease, but the Malaysian Rare Disorder Society provided a reference guide. It states "Rare disorders including those of genetic origin, are life-threatening or chronically debilitation diseases which are of such low prevalence that special combined efforts are needed to address them.” Low prevalence was defined as a prevalence of less than 1 per 4,000 in the community (3).

Doctors less experienced in treating orphan diseases

Often times, a diagnosis of orphan disease will be devastating to the patients as their attending doctors most likely have very little experience in treating such a condition. Due to the extremely low number of cases, treatment options are also equally restricted. Since the market for treatment is small, historically there has been little incentive for pharmaceutical companies to invest heavily in research and development of orphan drugs.

However, orphan diseases are steadily gaining acknowledgement from a larger audience. Today, the development of orphan drugs are fast becoming a central agenda for the pharmaceutical industry, thanks to strong backing from the U.S. Congress by passing the Orphan Drug Act 1983 which allowed certain incentives (such as tax breaks) to companies (4). Several other Asian nations such as Japan, Taiwan and Korea soon developed their own national orphan drug legislation to facilitate development in this area (2).

Advancement in medical science has resulted in orphan drug development

Orphan drug development has been further invigorated in recent years as advances in medical sciences allow researchers to explore orphan diseases with new perspectives. A growing understanding of the human genome also provided the much-needed tools to uncover the origins of these conditions. In 2015, the U.S. FDA had granted a record number of 354 orphan drug designations, a 22% increase compared to the year before (an orphan drug designation is where the agency agreed that the drug qualifies for an orphan status before the drug is approved). 41 orphan drugs were approved by the agency in 2015 (5).

Malaysia has not yet established any sort of legislation to govern the matter of orphan diseases. However, the government has prioritised efforts to encourage local pharmaceutical companies to venture into this area. Under the federal government's Economic Transformation Programme, one of the healthcare entry point projects is to create an orphan drug ASEAN manufacturing and exporting hub in Malaysia. Under the project, the government seeks to address multiple barriers to access quality orphan drugs in the country, such as perceived low sales opportunity for pharmaceutical industry, complex regulatory environment and the lack of knowledge to treat the diseases effectively. A local pharmaceutical company, Hovid Berhad, has been chosen to spearhead such efforts in collaboration with AFT Pharma (a New Zealand pharmaceutical company) (6). MIMS

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1. America’s biopharmaceutical research companies. Rare Diseases A Report on Orphan Drugs in the Pipeline. 2013.
2. Malaysia Metabolic Society. Orphan Drug Legislation [Internet]. Malaysia Metabolic Society - Resources. 2011 [cited 2016 Oct 4]. Available from: http://mms.my/article.php?aid=5
3. Malaysia Rare Disorder Society. RARE DISORDERS [Internet]. Malaysia Rare Disorder Society. [cited 2016 Oct 4]. Available from: http://www.mrds.org.my/rare-disorders/
4. US FDA. Orphan Drug Act [Internet]. U.S. Food and Drug Administration. 2013 [cited 2016 Oct 4]. Available from: http://www.fda.gov/RegulatoryInformation/Legislation/SignificantAmendmentstotheFDCAct/OrphanDrugAct/
5. SIlverman E. FDA designated a record number of orphan drugs last year [Internet]. Pharmalot. 2016 [cited 2016 Oct 4]. Available from: https://www.statnews.com/pharmalot/2016/02/11/fda-designates-record-number-of-orphan-drugs/
6. PEMANDU. Creating an Orphan Drug ASEAN manufacturing and export hub in Malaysia [Internet]. pemandu.gov.my. 2013 [cited 2016 Oct 4]. Available from: http://etp.pemandu.gov.my/12_December_2013-@-Creating_an_Orphan_Drug_ASEAN_manufacturing_and_export_hub_in_Malaysia.aspx#