The National Policy for Rare Diseases (NPRD) 2021 provides a comprehensive framework for the diagnosis and treatment of rare diseases.
NPRD classifies rare diseases into three categories. The first includes conditions that can be treated with a single intervention, such as tyrosinemia, which is amenable to treatment through haematopoietic stem cell transplantation (HSCT) or organ transplantation.
The second includes diseases such as galactosemia and osteogenesis imperfecta, which require long-term or lifelong treatment with lower-cost interventions. NPRD suggests that State governments should consider supporting patients in this category due to the relatively low costs.
The third category includes diseases such as Gaucher disease, cystic fibrosis (CF), spinal muscular atrophy (SMA), and Duchenne muscular dystrophy (DMD), for which treatments exist but are prohibitively expensive.
Denial of treatment
The policy has been implemented selectively, leading to denial of treatment for several people living with rare diseases. The Centre’s decision to cap financial assistance for rare diseases at ₹50 lakh — without taking measures to reduce the cost of drugs — is worrisome. This forces many patients in the third category to rely on personal resources or donations to fund costly treatments for diseases such as SMA (₹72 lakh per annum) and CF (₹2.7 crore).
In a case involving multiple patients, the Delhi High Court issued a judgement that included directives aimed at reducing treatment costs. Similarly, the Kerala High Court ordered additional supply of a drug — Risdiplam — beyond the ₹50-lakh cap for a patient with SMA.
In both instances, the Centre secured stay orders from the Supreme Court (SC). Many patients are now left without treatment, as they have exhausted the ₹50 lakh aid.
The policy acknowledges the higher prices and envisages initiatives to produce affordable versions of medicines and therapeutics outside patent protection. So far, the initiative has focused on generic production of off-patented drugs. Patent monopolies are drivers of high prices. Local production can reduce the price of the medicines by 90-95 per cent.
Local production
Recognising the high prices of medicines due to patent protection, para XI of NPRD states: ‘Department of Pharmaceuticals, Department for Promotion of Industry and Internal Trade (DPIIT) will be requested to promote local development and manufacture of drugs for rare diseases by public and private sector pharmaceutical companies at affordable prices and take legal/legislative measures for creating conducive environment for indigenous manufacturing of drugs for rare diseases at affordable prices…”
This means, the Health Ministry needs to make a request to facilitate local production of patented medicines through government use or compulsory licence under the relevant provisions of the Patents Act. No request seems to have been made. The partial implementation of the policy is not only denying patients the right to life and health but also leading to wasteful expenditure of public funds without any tangible health benefits for patients. Initiating patients on medicines only to discontinue after about three months is unethical. A comprehensive implementation of the policy is urgently required.
(The writer is with the international Right to Breathe Campaign, advocating for affordable cystic fibrosis medications, and a member of the Cystic Fibrosis Trust, India. Views are personal)
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Published on April 6, 2025
