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  • Context (TH): The 19-year-old Dangal actress Suhani Bhatnagar passed away recently due to dermatomyositis.
  • Rare diseases affect 1 or fewer people per 1,000 (WHO).
  • Only 5% of the 7,000 known diseases have treatments. Many get only basic help to ease symptoms.
  • Some need expensive medicine they can’t afford, leading to suffering and death for many.

Rare diseases in India

  • India accounts for one-third of the global rare disease incidence, with over 450 identified diseases.
  • Major Rare Diseases in India: Spinal Muscular Atrophy, Gaucher’s disease, Mucopolysaccharidosis type 1 and Whipple’s disease.
  • A rough estimate suggests that about 8 crore-10 crore Indians suffer from one rare disease or another, and over 75% are children.
  • Dermatomyositis is a rare disorder causing muscle inflammation. Its causes are unknown.
  • Spinal muscular atrophy (SMA) is a disorder affecting the nerve cells that control voluntary muscle movement.
  • Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
  • Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. As a result, the molecules build up in different parts of the body and cause various health problems.
  • Whipple’s disease is a multi-system infectious bacterial disease that interferes with the body’s ability to metabolise fats. Caused by a bacterium called Tropheryma whipplei.

Challenges/Issues in tackling Rare Diseases

  • Rare diseases are largely overlooked.
    • Treatments approved by the Drugs Controller General of India are available for just about 20 rare diseases and can be availed only from Centres of Excellence (CoEs). Although, 50% of the 450-odd rare diseases identified in India are treatable.
  • Lacks a standard definition for rare diseases.
  • Lack of awareness: Physicians are generally unaware of how to interpret the signs and symptoms.
  • Difficulty in Diagnosis: it takes an average of seven years for their conditions to be diagnosed.
  • Inadequacy in drug development for rare diseases.
  • Inadequate Funding: The Budget’s allocation for rare diseases, although increasing over the years, remains low at ₹93 crore for 2023-2024.
    • According to National policy for rare diseases (NPRD) rules, each patient can receive up to ₹50 lakh. However, for lifelong management and therapy of chronic rare diseases, this amount is inadequate.
  • Issues with CoEs: CoEs are few (12) and unevenly distributed.
    • Inadequate Fund utilisation by CoEs. E.g. more than ₹47 crore of the ₹71 crore financial assistance allocated to the 11 CoEs for the current year remains unused.

Way forward

  • Recommendation for the Central government
    • Frame a standard definition of rare diseases.
    • Increase budgetary outlays.
    • Develop dedicated funding for drug development and therapy.
    • Increase the number of CoEs.
  • Recommendation for the State governments
    • Must introduce social assistance programmes.
    • Develop satellite centres under the CoEs.
  • Recommendation to increase Funding
    • Public and private companies could be co-opted for funding.
    • CSR initiatives and partnerships can be leveraged to meet shortfalls.
  • Recommendations to address the issue of exorbitant drug prices and availability
    • The government must incentivise domestic manufacturers under the Production-Linked Incentive Scheme.
    • Reduce clinical trial requirements in appropriate cases.
    • Explore options such as repurposed drugs and bulk import.
    • Need to withdraw GST on life-saving drugs.
  • Other Recommendations
    • Healthcare professionals must be trained to improve their diagnostic accuracy.
    • Expectant mothers with a history of rare diseases in their family must undergo mandatory pre-natal screening and post-natal diagnosis.

To know more on National Policy for Rare Diseases visit >National Policy for Rare Diseases 2021.

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