Under the NPRD, rare diseases are categorised into three groups. Group 1 includes disorders amenable to one-time curative treatment.

Group 2 covers conditions requiring long-term or lifelong therapy at relatively lower costs, with documented benefits and regular monitoring.

Group 3 comprises diseases where definitive treatments exist but are extremely expensive, require lifelong administration, and demand careful patient selection.

In Parliament this month, the government stated that approximately Rs 264 crore had been allocated to Centres of Excellence (CoEs) between 2021–22 and March 2025. Around Rs 618.4 crore has been budgeted for 2025–26.

With the treatment ceiling capped at Rs 50 lakh per patient, even if each beneficiary received the maximum amount, only about 650 patients may have been covered so far — a fraction of the 15,000 seeking support through crowdfunding, and negligible compared to the estimated burden nationwide.

Funds are routed through 15 COES— tertiary hospitals specialising in rare diseases across the country.

Prasanna Shirol of the Rare Disease Organisation of India (ORDI) says CoEs are disbursing funds, but typically prioritise younger children or patients who require comparatively less expensive drugs.

“Also while Centres says its state’s responsibility to fund treatment beyond Rs 50 lakh limit- states are now passing the buck saying treatment should be provided under the NPRD.” he said.

Dr Shefali Gulati, a paediatric neurologist at AIIMS, New Delhi, says the issue often becomes an ethical dilemma — whether to initiate a treatment that may cost Rs 4–5 crore annually.

“It’s mostly the case in the case of diseases in group 3,” she said.

Also, a confirmed diagnosis from designated tertiary government hospitals is mandatory, and the condition must appear on the limited approved list of just 52 diseases.

“Upfront costs for diagnostic tests burden families financially, while prolonged approval processes—often spanning months—exacerbate patient suffering in the interim,” Dr Gulati said.

Lack of awareness, problems in providing sustained assistance and cumbersome administrative processes as other barriers, she added.

PUSH FOR DESI SOLUTIONS— BUT SLOW PROGRESS

As part of the NPRD, the government began collaborating with public agencies and pharmaceutical companies in 2022 to develop indigenous drugs for 13 priority rare diseases, along with sickle cell anaemia.

In 2023, four Made-in-India drugs for some of these priority conditions were launched, significantly lowering costs for certain patients.

One such breakthrough was for Tyrosinemia Type 1, a disorder marked by jaundice, liver failure and a high risk of liver cancer. Untreated children often do not survive beyond the age of 10. The imported drug, Nitisinone, costs between Rs 2.2 crore and Rs 6.5 crore annually, depending on body weight.

In another landmark development, the Delhi High Court allowed Hyderabad-based Natco Pharma to manufacture a generic version of Risdiplam, used to treat spinal muscular atrophy (SMA), a neuromuscular disorder caused by deficiency of a key protein, leading to progressive muscle weakness and wasting.

Following the October ruling, Natco began selling the generic under the brand name Natsmart at Rs 15,900 per bottle — nearly 97 percent cheaper than Roche’s imported Evrysdi, which had cost as much as 6.2 lakh per bottle in India.

“These developments have been crucial – but not sufficient considering the huge burden of the diseases in the country and the massive in care,” said Shirol.

Dr Ashraf Mannan, vice-president at Variant Science, Strand Life Science, says that despite the staggering potential burden of rare diseases in India, policy, research and clinical practice remain limited. The landscape continues to face deep challenges in awareness, diagnosis, financing and access to care, despite recent policy steps.

Public health specialist Dr Sabine Kapasi says meaningful change will come only when rare diseases are treated as a sustained public health priority — one that demands continuity, coordination and compassion.

PUSH FOR DESI SOLUTIONS— BUT SLOW PROGRESS

As part of the NPRD, the government began collaborating with public agencies and pharmaceutical companies in 2022 to develop indigenous drugs for 13 priority rare diseases, along with sickle cell anaemia.

In 2023, four Made-in-India drugs for some of these priority conditions were launched, significantly lowering costs for certain patients.

One such breakthrough was for Tyrosinemia Type 1, a disorder marked by jaundice,

liver failure and a high risk of liver cancer. Untreated children often do not survive beyond the age of 10. The imported drug, Nitisinone, costs between Rs 2.2 crore and Rs 6.5 crore annually, depending on body weight.