Rare Diseases

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.

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.

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.