India’s rare-disease funding cap set at Rs 50 lakh as Rs 72 lakh SMA drug exposes access gap

A Rs 50 lakh ceiling on government support under India’s National Policy for Rare Diseases is colliding with therapy costs that can exceed that amount in a single year—most visibly Roche’s Risdiplam for spinal muscular atrophy (SMA), which is priced at about Rs 72 lakh annually.

With a generic alternative held up in patent litigation, patients and families are increasingly turning to courts to secure treatment. Globally, around 7,000 rare or “orphan” diseases affect an estimated 4% to 6% of the world’s population—nearly over 400 million people out of about 8.2 billion.

Three-quarters of those affected are children. Definitions vary by jurisdiction: the United States classifies a disease as rare if it affects fewer than 200,000 individuals, while the European Union defines it as affecting fewer than 1 in 2,000 people. In India, even a small percentage translates into hundreds of thousands of patients.

SMA illustrates the stakes. Caused by a mutation in the SMN1 gene that leads to insufficient production of the Survival Motor Neuron protein, the disease progressively weakens spinal muscles, impairs posture and breathing, and is ultimately fatal. An estimated 3,112 infants with SMA are born in India each year.

A medical genetics clinic serving Uttar Pradesh—home to 16.5% of India’s population—and neighbouring states found an SMA carrier frequency of 1:38 among individuals with no prior family history, a finding with significant policy implications. The treatment landscape is thin and expensive.

Medicines for rare diseases are typically not a priority for the pharmaceutical industry. The few therapies that exist have largely been developed by Western and Japanese multinational companies, which cite high discovery and development costs and price drugs at levels far beyond the reach of most patients.

Wealthy countries and Japan buffer those costs through national health systems that cover rare-disease treatments; many developing countries lack comparable safety nets, making access a persistent challenge. India introduced the National Policy for the Treatment of Rare Diseases in 2017 and expanded it in 2023.

At the instance of the Delhi High Court in Arnesh Shaw v Union of India, the National Policy for Rare Diseases was notified by the Government of India on 23 March 2021 (NPRD 2021). According to the policy, most major rare diseases are already covered.

The NPRD 2021 organizes conditions into three groups: Group 1 includes disorders that can be cured with one-time treatments such as certain lysosomal storage disorders and immune deficiency disorders; Group 2 covers diseases requiring long-term or lifelong treatment with relatively lower costs, including phenylketonuria and homocystinuria; Group 3 includes disorders for which definitive treatment exists but with high costs and lifelong therapy, such as Gaucher disease and Duchenne muscular dystrophy.

Under NPRD 2021, the government funds the procurement of medicines for rare-disease patients. The central impediment is the per-patient expenditure ceiling. Initially set at Rs 20 lakh (USD 22,760), the cap was raised to Rs 50 lakh (USD 56,900) following directions from the Delhi High Court in Master Arnesh Shaw.

That ceiling sits uneasily with high-cost, lifelong therapies in Group 3. Risdiplam’s annual price at about Rs 72 lakh outstrips the cap, and while a generic alternative exists at a fraction of the price, it remains tied up in patent litigation. Against this backdrop, rare-disease patients across India have been compelled to approach High Courts to seek directions requiring the government to provide treatment.

Most of these cases were filed in the Delhi High Court. As legal and funding limits intersect with the realities of long-term care, the availability of lower-cost therapies—and the resolution of ongoing patent disputes—will be pivotal to broadening access.