Globally, people living with rare diseases experience barriers to access timely care due to delays in diagnosis. The low prevalence of rare diseases, huge investment often deters industries from developing novel drugs. It is estimated that less than one-tenth of patients with rare diseases have received disease-specific treatment.


Orphan Drugs– Overview

Rare diseases are diseases that affect 1 in 2,500 population as per the global average. The prevalence of rare diseases varies from 1.5 to 6.2% from one country to other as per many factors. The New Drug clinical trials rules, 2019 describe Rule X as an “orphan drug” which defines rare diseases as diseases which affects not more than five lakh persons in India (Ministry Of Health And Family Welfare, 2019). In India there are only 450 recorded rare diseases. The most common rare diseases include Haemophilia, Thalassemia, Sickle-cell Anaemia and Primary Immuno Deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies and spinal muscular atrophy, etc. As the number of persons suffering from individual rare diseases is small, they do not constitute a significant market for drug manufacturers to develop drugs. For this reason, rare diseases are also called ‘orphan diseases’ and drugs to treat them are called “orphan drugs” (National Policy For Rare Diseases, 2021).

Challenges to orphan diseases

Rare or orphan diseases are chronic and life-threatening illnesses requiring proper long-term medical treatment. As per the estimate, approximately 6 to 8% of people are affected by rare diseases worldwide. According to the estimate in 2016, in India about 72–96 million people are affected by any rare disease. Half of the new Rare disease cases impact children aged between 1 to 5 years, responsible for 35% of deaths in infants, 10% in under 5 children, and 12% between 5 and 15 years (National Policy for Treatment of Rare Diseases, (2017).

Early diagnosis of rare diseases is a challenge owing to multiple factors that include a lack of basic knowledge among primary care physicians, lack of adequate screening and diagnostic facilities. In addition, many doctors lack the appropriate training to correctly and timely diagnose it. It also includes the high cost of treatment due to the lack of health insurance and the dearth of research due to the absence of prevalence data (Thakur, S. (2022). Many people living with rare diseases experience barriers to access timely care because it takes 5 to 8 years for patients in the United Kingdom and the United States to receive an accurate diagnosis (National Policy For Rare Diseases, 2021).  Therefore, less than 1 in 10 patients received accurate treatment.

Lack of focus on antibiotics or orphan diseases

Rani, Koippallil Gopalakrishnan Aghila, et al. said that the cost of developing a single orphan drug ranges from 1 billion to 11.8 billion. The cost spent on developing an individual drug largely depends on the costs to conduct safety & efficacy studies and to secure regulatory approvals. Lack of funding is one of the causes involved in completing a trial resulting in failures to reach the market. The country lacks investment in research and development of rare diseases or orphan drugs. Aside from the high cost of the drug discovery process, other drugs, like antibiotics or orphan drugs, are often abandoned and do not reach the market due to little or no commercial interest. (Rani, K. G. A., Hamad, M. A., Zaher, D. M., Sieburth, S. M., Madani, N., & Al-Tel, T. H. (2020).

India with a large pharmaceutical market in this world (10% of global production) and 2% of the world market is famous for producing and providing pharmaceutical products at much cheaper prices than the US and EU. However, to treat rare diseases, the prices are extremely high apparently to recoup the cost of research and development. At present, only the Food for Special Medical Purposes(FSMP) is manufacturing drugs for rare diseases in India for treating small molecule inborn errors of metabolism. Adding to it,  there are only two main diagnostic centers for myopathies in India, namely the National Institute of Mental Health and Neurosciences, Bengaluru, and Bombay Hospital, Mumbai. The estimated cost for treatment of rare diseases including drug cost or lifespan up to 26 years for a child weighing 10 kg is between Rs 10 lakh to more than 1.7 crore per year which increases with age and weight (Taneja, A., Shashidhara, L. S., & Bhattacharya, A. (2020). There are some special clinical diagnostic and testing centers in India are in place. The government of India has given Financial support up to Rs. 50 lakhs to the patients suffering from any category of Rare diseases in Centre for Excellence (CoE) for Rare Diseases under National Policy for Rare Diseases (NPRD)' 2o2l ( Ministry of Health and Family Welfare, 2021). However, it might not cover the full cost of treatment.

Post Covid-19 pandemic, the countries have renewed interest in drug development and continue to launch costly COVID-19 vaccines, with vaccination campaigns beginning in more than 30 countries in 2020, including China, Israel, Russia, Mexico, the USA, and the UK, and later in India and many other countries. As a result, the vaccine against COVID-19 was launched within 9 months where as in past, it took at least 5 years to launch such type of vaccine (Ranabhat, C. L., Jakovljevic, M., Kim, C. B., & Simkhada, P. (2021). Countries like US and Canada have dealt with the high cost of orphan drugs by providing incentives to drug manufacturers to encourage them to manufacture drugs for rare diseases. The economic incentives & safeguards offered under the Act ensure benefits to the local patients. However, drug prices for rare diseases remain an issue of concern (National Policy For Rare Diseases, 2021).


Countries have the potential to fill in resources; develop solutions faster to mitigate the severity it brings to human lives. Sustainable Development Goal 3 emphasizes a vision of inclusive healthcare. Indian Pharmaceutical companies could also be incentivized, for instance, by giving them exclusive rights to sell medicines. Rare disease affects a small number of people but it does not make them irrelevant or less important than diseases that affect millions.


1. Rani, K. G. A., Hamad, M. A., Zaher, D. M., Sieburth, S. M., Madani, N., & Al-Tel, T. H. (2020). Drug development post-COVID-19 pandemic: toward a better system to meet current and future global health challenges. Expert Opinion on Drug Discovery, 1.

2. Ranabhat, C. L., Jakovljevic, M., Kim, C. B., & Simkhada, P. (2021). COVID-19 pandemic: an opportunity for universal health coverage. Frontiers in Public Health, 9, 673542.

3. Government of India. National Policy for Treatment of Rare Diseases. (2017) New Delhi: Ministry of Health and Family Welfare; 2017. p. 1-36ss

4. Government of India. New drug clinical trials rules. (2019). Ministry Of Health And Family Welfare, 2019

5. Government of India. National Policy for Treatment of Rare Diseases. (2021). New Delhi: Ministry of Health and Family Welfare; 2021.

6. Thakur, S. (2022). Advances in orphan drug development: Time to change the status and stereotype. Perspectives in Clinical Research, 13(3), 123.

7. Government of India. Ministry of Health and Family Welfare, Rare Disease Cell (2021). https://main.mohfw.gov.in

8. World Health Organization, (2018). https://www.who.int/news/item/27-02-2018-statement-for-rare-disease-day.

9. Taneja, A., Shashidhara, L. S., & Bhattacharya, A. (2020). Rare diseases in India: Time for cure-driven policy initiatives and action. Curr Sci, 118, 1500-6.