Why in news?

The Delhi High Court recently issued directions to improve the availability of orphan drugs, which are used to treat rare diseases.

The Centre provides financial assistance to Centres of Excellence (CoE) for treatment, but stakeholders have approached the courts, citing difficulties in accessing these funds.

What’s in today’s article?

• Rare diseases
• Steps taken by the govt
• Criticism

Rare diseases

• Definition
  • According to the World Health Organization (WHO), a rare disease is a debilitating, lifelong condition affecting 1 or fewer people in 1,000.
  • In India, around 55 medical conditions, including Gaucher’s disease, Lysosomal Storage Disorders (LSDs), and certain forms of muscular dystrophy, are classified as rare diseases.
  • While a majority of rare diseases are believed to be genetic, many — such as some rare cancers and some autoimmune diseases — are not inherited.
• Prevalence in India
  • The National Registry for Rare and Other Inherited Disorders (NRROID), initiated by the Indian Council of Medical Research (ICMR), has recorded 14,472 rare disease patients in the country.
  • However, therapies exist for less than 5% of rare diseases, with only 1 in 10 patients receiving disease-specific care.
  • The treatments available are often prohibitively expensive.
• Categories of rare diseases
  • In India, rare diseases are categorised into three groups based on the nature and complexity of available treatment options.
  • Group 1 includes diseases that can be treated with a one-time curative procedure.
  • Group 2 diseases require long-term or lifelong treatment which are relatively less costly and have shown documented benefits, but patients need regular check-ups.
  • Group 3 diseases are those for which effective treatments are available, but they are expensive and must often continue lifelong.
• Associated challenges
  • Early diagnosis
    • Early diagnosis is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.
  • Less knowledge of pathophysiology in Indian context
    • Relatively little is known about the pathophysiology or the natural history of majority of rare diseases, particularly in the Indian context.
  • Challenges in R&D
    • Rare diseases are also difficult to research upon as the patients pool is very small and it often results in inadequate clinical experience.
  • High cost
    • The cost of treatment of rare diseases is prohibitively expensive. For example, treatment for Spinal Muscular Atrophy (SMA) costs approximately Rs. 16 crore.
    • Many orphan drugs are patented, making them highly expensive due to limited market size and high development costs.
    • Pharmaceutical companies often avoid producing these drugs, leading to inflated prices.
    • Manufacturing orphan drugs domestically could lower costs, but government incentives such as tax breaks would be needed to encourage production.

Steps taken by the govt

• National Policy for Rare Diseases (NPRD) 2021
  • In 2021, NPRD was launched, offering financial aid up to ₹50 lakh for patients undergoing treatment at designated Centres of Excellence (CoEs) such as AIIMS Delhi, PGIMER Chandigarh, and SSKM Hospital in Kolkata.
• Digital Portal for Crowdfunding & Voluntary Donations
  • In 2022, the Health Ministry introduced a Digital Portal for Crowdfunding & Voluntary Donations, providing details about patients, treatment costs, and CoE bank accounts for potential donors.
• Financial aid released by the govt
  • Between 2021 and August 2024, the government released financial aid of ₹3.15 crore (2021-22), ₹34.99 crore (2022-23), ₹74 crore (2023-24), and ₹24 crore (2024-25).
  • Additionally, ₹35 crore was allocated to improve patient care services by purchasing equipment.
• Import Duties and GST Exemptions
  • Currently, patients importing rare disease medicines are exempt from customs duty, but companies still pay 11% customs duty and 12% GST on these imports.
  • The Delhi High Court has set a 30-day deadline to process these exemptions for medicines under customs, GST, and income tax laws.
• Provision for third-party manufacturing
  • If treatments for rare diseases are unavailable, the government can invoke provisions of the Patents Act of 1970 to allow third-party manufacturing or acquire patents to ensure drug availability.

Criticism

• Concerns Over Price Control Exemption
  • In 2019, the Department of Pharmaceuticals exempted orphan drugs from price controls.
  • The Delhi High Court raised concerns over this exemption, stating that this practice "cannot continue in this manner."
• Delays in Drug Approvals
  • Delays in approvals, such as for medicines from US-based Sarepta Therapeutics, have impacted patient treatment in India.
  • The National Rare Diseases Committee highlighted that a delay in approval from the Drug Controller General of India (DCGI) forced CoEs like AIIMS to import drugs through distributors, affecting timely patient care.