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Writer's pictureThe NPSi Med Club
Feb 26, 20225 min read

THE PARADOX OF ORPHAN TREATMENTS

The term ‘Orphan Disease’ refers to a condition that only affects a small percentage of the population. Different regions have their own definitions of what constitutes orphan diseases. In the USA, they are classified as illnesses affecting fewer than 200,000 people, whereas, in the European Union, they refer to diseases affecting less than 1 in 2000 people. Based on an analysis from 2019, orphan diseases, which include cystic fibrosis and Madelung’s disease, affect roughly 3.5 to 5.9% worldwide. Pharmaceutical companies are often unwilling to invest their resources towards the development of drugs for these conditions as the market is simply too small to generate sufficient profits. Therefore, the question that often goes unanswered due to pharmacological neglect is, ‘Are these diseases treatable?’



Individuals with orphan diseases often struggle to receive an accurate diagnosis, access to care and readily-available treatment. Fewer than 10% of patients with rare diseases receive disease-specific treatment and there are no FDA-approved medications for more than 90% of these diseases. Moreover, many individuals with orphan diseases find it difficult to afford the treatments as they are generally extremely expensive without government subsidies and assistance from charities. According to a study by America’s Health Insurance Plans (AHIP), orphan drugs* are 25 times more expensive than commonly prescribed drugs!


The process of production of orphan drugs is also more complex than that of regular drugs. This is because there is an insufficient number of people for participation in the clinical trials for the drug. Small sample sizes make it difficult to organise frequent clinical trials and determine the efficacy of a treatment. There are, however, some ways to overcome this problem. The usage of patient registries and biorepositories can help gain a greater understanding of the diseases and their natural history, which in turn help assess the impact of treatments. Patient registries can also help broaden a researcher’s knowledge about rare conditions, which is necessary in order to produce specific medications that target them. However, as this method deviates from the standard protocol, it is quite difficult for researchers to work with and understand the connection between results.

Thankfully, the governments of countries such as the USA, Singapore, Japan, Australia and South Korea have taken steps towards increasing the accessibility of treatments for those affected by rare illnesses. The Orphan Drug Act of 1983, implemented in the USA, was the earliest measure to encourage pharmaceutical companies to develop treatments for rare diseases and has been widely successful. As part of the act, financial incentives, like research grants and subsidies, have been introduced to motivate companies to dedicate funds towards the research and development (R&D) of orphan drugs. Additionally, some companies have been promised extended periods of exclusivity - this allows them to sell their products for a longer duration in the market without direct competition from other companies with similar or identical products. As the sole sellers of these products, these companies can function as monopolies in the market, charging high prices and gaining substantial financial returns. They are thus further incentivised to produce more of these profitable orphan drugs, generating a positive feedback loop. Public, non-profit enterprises that focus on the research and development of orphan drugs have also been formed, for example The Institute for Life Changing Medicines in the USA.


The global market value of orphan drugs has been rising over the years as orphan drugs like Remicade, which were initially formulated to treat one disease, are now prescribed to patients with other, more common diseases like arthritis. The market value is forecasted to rise further as a greater number of orphan drugs are given approvals. Additionally, the emergence of around 250 new diseases each year is also one of the reasons that is speculated to increase the market value. Another possible cause is the surging production costs of blockbuster drugs**, which discourages their production. Resources that are used to produce the blockbuster drugs are being reallocated to other uses, one of them being the production of orphan drugs. The production costs of orphan drugs can be lower in some cases, one of the reasons being that a smaller sample size of patients available renders the clinical trials cheaper. However, a minimum sample size for a clinical trial always needs to be met, thus companies try to overcome this setback through advertising the clinical trials extensively.


5-year-old Ibrahim Hussein was affected by a rare disease known as Sturge-weber syndrome from birth. Many doctors had failed to accurately diagnose his condition, leading to an exacerbation of the disease over time. This

prompted the launch of a regional project known as ‘The Integrated Project of Health, Nutrition, and WASH’ in Yemen which allowed access to high quality healthcare and medication gratis, helping to correctly identify Ibrahim’s condition and provide him with disease-specific treatment that had allowed his health to improve greatly. Instances like these give us confidence that with adequate support from governments and charitable organisations, we can make progress towards eventually treating a huge number of rare conditions.


*An orphan drug is a medicine or vaccine that treats, prevents, or diagnoses a rare disease.

**A blockbuster drug is a highly popular drug that generates a high revenue for a company till its patent expires.


Written by Sangeetha Janaswamy


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