Orphan Medicines and India

According to the National Cancer Institute, an orphan medicine is defined as a medicine used to treat, prevent, or diagnose an orphan disease.[1] World Health Organization defines rare/orphan disease as a disease or condition with a prevalence of less than one per thousand persons.[2] The severity of such diseases, small and heterogeneous patient populations, difficulties in patient recruitment, and limited knowledge of the natural history of the disease are some obstacles to the production of orphan medicine.[3] Due to the above-mentioned reasons, orphan medicines do not enjoy acceptable support and resources from the market. But these diseases are not as rare as one would think. Orphan diseases, such as cystic fibrosis, Lou Gehrig’s disease, Tourette’s syndrome, etcetera, are often life-threatening; hence, treatment is critical, especially when the majority of the patients are children. Even though only five per cent (5%) of rare diseases are known to have a cure, the right treatment may improve the quality of life for many patients. The conditions that orphan medicines are used to treat are referred to as orphan diseases. The assignment of “orphan” status to a disease and to the medicines developed to treat it is a matter of public policy, and it depends on the legislation (if there is any) of the respective country.

India has the highest population of people who are affected by rare diseases. Four hundred and fifty rare diseases have been identified in India so far, such as Budd Chiari Syndrome, Cerebellar Ataxia, Hirayama Disease, etcetera.[4] Orphan medicines are very expensive, thanks to the low market support that the orphan medicines enjoy.

In 2017, the Government of India introduced the National Policy for Treatment of Rare Diseases (the “NPTRD”). It faced several criticisms and faced several challenges in its implementation, which led to the appointment of an Expert Committee in 2018. The committee was appointed to review NPTRD, define rare diseases, draft the National Policy for Rare Diseases (the “NPRD”), etcetera. The NPRD essentially aims to lower the cost of treatment for rare/orphan diseases.[5] This new policy also seems to have a lot of limitations.

India is a signatory to the Universal Declaration of Human Rights (the “UDHR”). Moreover, India is a country that has recognized the Right to Health and Healthcare through various judgements, in the case of Mohd. Ahmed v. Union of India (2014) SCC OnLine Del 1508, the Delhi High Court had observed that the State had a constitutional obligation to ensure access to life-saving medicines.[6] Thus, access to orphan medicines is also to be considered as a facet under Article 21 of the Constitution of India, 1950, i.e., the Right to Life.

First of all, the citizens must be made aware of orphan diseases. Conditions such as cystic fibrosis were thought to be very rare in India; however, a genetic study has revealed that the condition is widespread, but it was previously undiagnosed. There is a social stigma associated with these diseases. Medical practitioners lack practical awareness about such diseases since some people shy away from receiving treatments.

In India, there is a lack of research and development in the area of orphan diseases. This is again attributed to the fact that these diseases are ‘rare’. Orphan diseases are strenuous to research since the number of patients is very few. There is very little known regarding the pathophysiology and natural history of these diseases. Thus, the physicians must collaborate with other regional and international researchers who work on the very same topic.[7] However, for the same to be possible, the government should be willing to provide special grants for researchers who work on orphan diseases and medicines.

Like any other medicine manufacturing and development, orphan medicines development is also very expensive. Indian pharmaceutical companies shy away from investing time and resources in developing orphan medicines. This is mainly because the returns/ profits are less than any other medicines since orphan diseases are comparatively rare. So, the government should be ready to incentivize the manufacturing of orphan medicines. There should be a separate budget allocation for the same.

The United States of America made a path-breaking law on orphan medicines: the Orphan Medicines Act, 1983 under the regime of President Reagan and managed to successfully tackle the profit motive of the pharmaceutical industry in favour of the needs of the patient with this legislation, wherein the United States of America was successful in approving approximately ten medicines per year and more than 250 medicines have been approved so far with an intention to treat more than 2,00,000 people in the country.[8] In Europe, orphan medicines are considered to be all medical products that the pharmaceutical industry would be unwilling to develop under normal market conditions, provided it is related to a condition that affects not more than 5 people per 10,000 citizens. It is the European Medical Agency (the “EMA”) and the Committee on Orphan Medical Products that play a central role in facilitating the development and authorization of medicines for rare diseases.[9] Additionally, the European Union also established the Rare Disease Task Force in 2004, under the European Commission Public Health Directorate, to provide evidence to support the orphan medicines cause.[10] Australia also has a similar appropriate threshold for orphan medicines under its 1997 legislation.[11] Meanwhile, Japan categorized an Orphan Disease in the 1993 legislation as a condition that impacts less than 50,000 citizens (which is less than 3.9 per 10,000 individuals), coupled with the absence of adequate treatment and the requirement for the development of new medicines.[12] In recent years, countries like South Korea and Taiwan have made considerable progress in legislation. In fact, China is also actively making new regulations for orphan medicines.[13] The Taiwanese government has identified more than 160 rare diseases while developing 77        orphan medicines and 40 special nutrients for the treatment of rare diseases.[14] The Taiwan Centre for Rare Disorders was established in 1999 with the motive to help patients suffering from rare diseases. Meanwhile, South Korea provided guidelines for orphan medicines back in the year 2003 and identified a rare disease as any disease that affects fewer than 20,000 people, wherein South Korea stipulated exclusive marketing rights for six years to encourage medical research and development of orphan medicines.[15]

Despite severe child mortality associated with rare diseases, India’s ambitious Ayushman Bharat does not have any provision to integrate the draft policy and effectively implement it. Meanwhile, the 2021 Budget, as well as the 2022 budget, shunned orphan medicines blatantly and made no allocation for such plans despite one-fifth of its population suffering from the same.[16] The existing NPRD embraces a very minimalist approach and maintains the position that it is a “State” matter.

There is no law in India or provisions in the draft policy exempting the medicines that are used to treat rare genetic diseases from ‘price control’; this aspect is very important considering the nature of the medicine market is oligopolistic and often there is a tendency to jack up the price of orphan medicines. For example, there was a global outrage when the price of Daraprim, the life-saving medicine that treats the liver when it does not produce bile acid, was shot up from $13.50 per pill to $750 per pill.[17]

There exists no denial in the fact that rare diseases and orphan medicines are a mammoth issue faced by thousands of children and other people. India has a long journey to trek to console the woes of its rare disease community. The government should work towards the establishment of the National Consortium for Research and Development on Therapeutics for Rare Diseases and the National Expert Committee on Rare Diseases. The assistance should reach the needy on time. It is also important that the government sees that the allocated funds for rare diseases reach the correct hands on time and that the budget is effectively utilized.

This article has been authored by K P Aswanth Babu.