As per parliamentary data, 13,479 patients have registered in the National Registry for Rare and Other Inherited Disorders.

About Rare Disease

• Rare diseases are conditions with a low prevalence, affecting a small population.
• According to WHO, a disease is considered rare if it affects 1 or fewer in 1,000 people.
• They include genetic diseases, rare cancers, tropical diseases, and degenerative disorders.
• Global Scenario: Over 7,000 rare diseases exist, but only 5% are treatable. 

About Rare Diseases in India

• India’s Rare Disease Burden: India accounts for a significant portion of the global rare disease cases, with estimates suggesting that between 80 to 100 million people are affected.
• The Delhi High Court highlighted that many more patients remain unregistered and stressed that the government and judiciary must not remain passive.
• Rare disease patients represent a manageable population size, making focused government intervention feasible.

Right to Health and State Responsibility

• The Supreme Court recognized the right to health and medical care as a fundamental right under Article 21 of the Constitution over three decades ago.
• Article 41 of the Directive Principles of State Policy mandates state assistance in cases of sickness and disability.

Provision for Rare Disease Treatment in India

• The National Policy for Rare Diseases (NPRD) was approved on March 30, 2021, following a court directive.
• In May 2023, the Delhi High Court ordered the formation of a five-member committee to monitor NPRD’s implementation.
• The NPRD offers financial support of up to ₹50 lakh per patient for treatment of rare diseases.
• Despite these provisions, the Ministry of Health and Family Welfare (MoHFW) has failed to adequately address the treatment needs of rare disease patients.

Challenges in Handling Rare Diseases

• High Cost of Treatment: Treatments like risdiplam for Spinal Muscular Atrophy (SMA) cost over ₹72 lakh annually, exceeding the ₹50 lakh financial limit set by NPRD.
  Patients often exhaust the financial aid quickly, leading to discontinuation of critical treatments.
• Insufficient Government Support: The MoHFW cited lack of funds as a reason for not extending assistance beyond ₹50 lakh. Court directions for continued patient treatment have been challenged by the ministry in the Supreme Court, delaying patient relief.
• Patent Barriers to Local Drug Production: Patent monopolies prevent local manufacturing of essential rare disease drugs like risdiplam and trikafta.Patent holders often refuse to market these medicines in India, exploiting monopolistic practices.

Way Forward

• Facilitate Local Production of Medicines: The MoHFW must coordinate with the Department of Pharmaceuticals and the Department of Promotion of Industry and Internal Trade to promote domestic manufacturing of rare disease drugs.
  • Generic versions could lower drug prices by 90–95%, dramatically improving accessibility.
• Address Patent Monopolies: Legal measures must be invoked to overcome patent barriers that restrict affordable medicine production and availability in India.
  • Government intervention is essential to prevent private monopolies from denying critical healthcare access.
• Strengthen Funding Mechanisms: The financial support cap under the NPRD should be revised to reflect the actual cost of treatment.
  • Policy delays must be minimized to ensure timely access to life-saving therapies for rare disease patients.
• Uphold Ethical and Legal Obligations: Authorities must uphold their constitutional and moral responsibilities to ensure that no child suffers or dies due to the inaccessibility of treatable medicines.
  • Swift action is necessary to prevent further hardship and heartbreak for families affected by rare diseases.