High drug costs and persistent treatment gaps are pushing many people living with rare diseases toward irreversible disease progression, often long before effective therapies become accessible.
According to Prasanna Shirol, rare disease advocate, co-founder & executive director ORDI (Organisation for Rare Diseases India), despite major advances in biomedical research, the high price of orphan drugs, delayed diagnoses, and limited availability of specialized care continue to deny patients timely treatment. For many rare disease patients, these barriers do not merely slow recovery, but permanently compromise health, and quality of life.
According to World Health Organization, rare diseases are defined as the one which affects about one or fewer people per 1,000 population. In India, as per ICMR it affects fewer than 1 in 2,500 individuals. At least 80% of rare diseases are identifiable as genetic origin and affects 50% of the children. 30% patients succumb before age of five. India accounts for 70 million patients. There are 7,000 to 8,000 rare diseases and the number of patients with known and novel disease is increasing annually. Only 5% of the rare diseases have treatment and others managed with supportive treatment and therapies.
The average time to diagnose a rare disease globally is nearly 7 years and this delay is one of the most critical challenges in India. Many rare diseases have treatments that are effective only when initiated at an early stage. Delayed diagnosis often results in missed or reduced treatment opportunities, leading to irreversible disease progression. This challenge is compounded by the limited availability of advanced diagnostic facilities, lack of newborn and genetic screening, and inadequate access to Centres of Excellence (CoEs) across the country, he added.
Most available rare disease therapies are patented orphan drugs, making them exorbitantly expensive, often costing several lakhs to multiple crores of rupees per year, with lifelong administration. Additionally, only a limited number of these therapies are available in India, and many need to be imported. Lack of information on drug availability, access pathways, and reimbursement mechanisms further burdens families. Patients are often required to travel long distances to the limited 15 notified CoEs, making continuity of care difficult and inequitable, Shirol told Pharmabiz.
Recognising the issues faced by rare disease patients Union government’s timely intervention brought under its ambit 63 rare diseases. It has categorised HSCT (Hematopoietic Stem Cell Transplant) as one-time treatment, diseases requiring long-term treatment but relatively low cost of treatment per year and proven clinical outcomes and high-cost or lifelong therapies.
The National Policy for Rare Disease 2021 has brought long-awaited recognition to rare diseases in India. There is a Rare Disease Patient Registry from ICMR, 15 COE’s, said Shirol.
However, for most families, the impact remains limited and uneven. The policy does not support lifelong and progressive rare diseases, which require sustained support. High-cost orphan drugs are largely excluded from this policy. 95% of the Rd without treatment needs lifelong Supportive treatment and therapies and this forces families into out-of-pocket spending, debt, or crowdfunding. The absence of clear mechanisms for sustainable funding, delayed approvals, and inconsistent implementation across all COE add to emotional and financial distress, said Shirol.
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