The Delhi High Court recently directed efforts to improve the availability of orphan drugs, medications used for treating rare diseases, which are defined by the WHO as conditions affecting 1 or fewer people per 1,000. Currently, treatments are available for less than 5% of rare diseases, with less than 1 in 10 patients receiving disease-specific care, largely due to the high cost of therapies and limited availability.

Rare Diseases in India

In India, 55 medical conditions—such as Gaucher’s disease, Lysosomal Storage Disorders (LSDs), and forms of muscular dystrophy—are classified as rare diseases. The National Registry for Rare and Other Inherited Disorders (NRROID), run by the Indian Council of Medical Research (ICMR), has recorded 14,472 rare disease patients across the country. However, existing therapies for these conditions are often costly, and financial assistance provided by the government has been inadequate, prompting legal challenges from stakeholders.

Categories of Rare Diseases

Rare diseases in India are divided into three categories:

  • Group 1: Diseases that can be treated with a one-time curative procedure.
  • Group 2: Conditions requiring long-term or lifelong treatment, which are less expensive and have documented benefits but require regular follow-ups.
  • Group 3: Diseases with effective but expensive treatments that usually need to be administered lifelong.

National Policy for Rare Diseases (NPRD)

The National Policy for Rare Diseases was launched in 2021, providing financial assistance of up to Rs 50 lakh to patients receiving treatment at designated Centres of Excellence (CoE). These include institutions such as AIIMS Delhi, PGIMER Chandigarh, and the Institute of Postgraduate Medical Education and Research (IPGMER) in Kolkata. In 2022, a Digital Portal for Crowdfunding & Voluntary Donations was also established to help fund treatments.

Since the policy’s inception, funding for the treatment of rare diseases has gradually increased, with Rs 24 crore released to CoEs by August 2024. Prior to this, the government released Rs 74 crore in 2023-24, Rs 34.99 crore in 2022-23, and Rs 3.15 crore in 2021-22.

Cost and Access to Orphan Drugs

  • Many orphan drugs are patented and come with high costs due to limited markets and expensive development processes, making these treatments inaccessible to many patients.
  • There is growing pressure on the government to incentivize the domestic production of these drugs, which could bring prices down. Tax incentives for pharmaceutical companies could help achieve this.
  • Currently, while patients importing rare disease medications are exempt from customs duty, companies importing these drugs still face 11% customs duty and 12% GST. The Delhi High Court has set a 30-day deadline to process exemptions for these medications.
  • An order issued in 2019 exempted orphan drugs from price controls, but the High Court has raised concerns, stating that this arrangement cannot persist indefinitely.

Government Measures and Legal Provisions

  • If orphan drugs are unavailable, the government has the authority under the Patents Act of 1970 to allow a third party to manufacture them, ensuring availability through the payment of a royalty to the patent holder.
  • The government can also acquire patents if a patent holder refuses to provide the drug, ensuring it is made available to patients in need.

However, red tape continues to hinder access to these medications. In June 2023, the National Rare Diseases Committee discussed the delay in Drug Controller General of India (DCGI) approvals for drugs from Sarepta Therapeutics (US), which were being imported by AIIMS and other CoEs for patients in urgent need.

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