Treatment of Rare Diseases

Syllabus: GS2/ Health

Context

• The Delhi High Court issued directions aimed at improving the availability of orphan drugs, which are medications used to treat rare diseases.

What are Rare Diseases?

• Rare diseases, also known as orphan diseases, are conditions that occur infrequently within a population.
  • They are characterized by three key markers: Total number of people with the disease, Prevalence and Availability /Non-availability of treatment options.
• The World Health Organization (WHO) defines a rare disease as a condition that affects a small percentage of the population, typically fewer than 1 in 1,000 to 2,000 people. 

Status of rare diseases 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 in India. 
• The National Registry for Rare and Other Inherited Disorders (NRROID) started by the Indian Council of Medical Research (ICMR) has the records of 14,472 rare disease patients in the country.

Challenges in the Treatment of Rare Diseases 

• Limited Availability: Less than 5% of rare diseases have available therapies, leaving fewer than 1 in 10 patients with access to disease-specific care.
• High Cost: Many rare disease treatments are patented, leading to high prices due to limited market size and high development costs.
  • Pharmaceutical companies find it unprofitable to produce these drugs, further driving up costs.
• Delays in approval processes: the National Rare Diseases Committee discussed delays in the Drug Controller General of India (DCGI) approving Sarepta Therapeutics’ medicines, leaving patients without timely access.
• Unequal Treatment Across Groups: While limited assistance is available for Group 1 and Group 2 diseases, Group 3 patients face significant financial and healthcare barriers. 

National Policy for Rare Diseases (NPRD), 2021 

• It was launched in 2021, under which financial assistance up to Rs 50 lakh is provided to patients receiving treatment at an identified Centre of Excellence (CoE).
• In India, rare diseases are categorized 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.

Other initiatives taken in India

• The Health Ministry has opened a Digital Portal for Crowdfunding & Voluntary Donations with information about patients and their rare diseases.
  • Donors can choose the CoE and patient treatments they wish to support. 
• Each CoE also has its own Rare Disease Fund, which is used with approval from its governing authority.
• The Department of Pharmaceuticals has launched the Production Linked Incentive (PLI) Scheme for Pharmaceuticals, offering financial incentives to selected manufacturers for domestic production of orphan drugs.

Way Ahead

• Domestic Manufacturing: Developing and manufacturing orphan drugs within India can significantly reduce costs.
  • The government should offer incentives such as tax breaks and subsidies to encourage pharmaceutical companies to invest in research and production of rare disease treatments.
• Leveraging the Patents Act of 1970: If treatments for rare diseases are unavailable or unaffordable, the government can use provisions under the Patents Act, 1970, to enable third-party manufacturing of patented drugs. 
• Faster approval processes for life-saving therapies will ensure that patients get quicker access to essential treatments.
• A sustainable, long-term funding mechanism needs to be established, especially for Group 3 rare diseases, to cover both immediate and lifelong treatment costs. 

Source: IE