One Year of Treatment, Then Nothing: India’s rare disease policy and why patients are left to fight alone

THERE ARE APPROXIMATELY 7,000 known rare diseases, often referred to as ‘orphan diseases’, affecting around 4 to 6 percent of the world’s population, that is nearly over 400 million people of the 8.2 billion people in the world. 75 percent of rare disease patients are children. In the United States (‘USA’), a disease is classified as ‘rare’ if it affects less than 200,000 individuals. In the European Union (‘EU’), they are defined as affecting less than 1 in 2,000 people. 

Because rarity is defined proportionally, even a small percentage translates, in a country of India’s size, into hundreds of thousands of affected individuals. Merely because they represent a small percentage does not mean their concerns and health can be ignored.

Why rare disease drugs remain out of reach

Rare diseases include Hutchinson-Gilford Progeria Syndrome, a genetic disorder causing rapid aging in children; and Spinal Muscular Atrophy, caused by a mutation in the SMN1 gene that results in insufficient production of the Survival Motor Neuron protein. The deficiency progressively weakens the muscles of the spine, impairing posture and breathing, and is ultimately fatal.

An estimated 3,112 infants with SMA are born in India every year. A medical genetics clinic covering Uttar Pradesh (home to 16.5% of India's population as per the last census) and neighbouring states found an SMA carrier frequency of 1:38 among individuals with no prior family history of the disease, a finding with significant implications for policy.

It is well-known that medicines for treating rare diseases are not a priority for the pharmaceutical industry. The few treatments that do exist are largely developed by Western and Japanese Multi-National Companies (‘MNCs’). On the pretext of high costs of discovery and development costs, these companies price their drugs at levels entirely beyond the reach of ordinary patients.. 

Western countries and Japan cushion their citizens through national health systems that cover rare disease treatments. In developing countries, no such safety net exists which makes access to costly rare disease medicines a persistent and often insurmountable challenge.

India’s policy on rare diseases

India is a good example of a developing country on what are the challenges for rare diseases and how they can be overcome. 

The Government of India introduced the National Policy for the Treatment of Rare Diseases in 2017, expanding the same in 2023. At the instance of the Delhi High Court in Arnesh Shaw v. Union of India (2024), the National Policy for Rare Diseases was notified by the Government of India on 23 March 2021 (‘NPRD 2021’). Currently, most major rare diseases are already covered under that policy. The NPRD, 2021, categorizes rare diseases into three groups:: - Group 1: Disorders that can be cured with one-time treatments, such as certain Lysosomal Storage Disorders and immune deficiency disorders; Group 2: Diseases requiring long-term or lifelong treatment with relatively lower costs, such as phenylketonuria and homocystinuria and Group 3: Disorders for which definitive treatment exists but with high costs and lifelong therapy, such as Gaucher Disease and Duchenne Muscular Dystrophy.

Under the NPRD 2021, the government funds the procurement of medicines for rare disease patients. The central impediment, however, is the per-patient expenditure ceiling. Initially set at Rs. 20 lakhs (USD 22,760), this ceiling was raised to Rs. 50 lakhs (USD 56,900) again at the Delhi High Court’s direction in Master Arnesh Shaw.