In News:

Patient advocacy groups across India have raised serious concerns over delays in implementing the National Policy for Rare Diseases (NPRD) 2021, which has left many rare disease patients — especially children — in life-threatening situations. They have urged the government for immediate intervention to resume life-saving treatments and release stalled funds under the policy.

Rare Diseases:

• Rare diseases are severe, often genetic, life-threatening disorders that impact a small percentage of the population.
• They disproportionately affect children, with 30% of diagnosed patients not surviving beyond age five without timely treatment.
• Examples include Lysosomal Storage Disorders (LSDs) such as Gaucher, Pompe, Fabry, and MPS I & II.

About NPRD 2021

The Ministry of Health & Family Welfare launched the National Policy for Rare Diseases in March 2021 to streamline the diagnosis, research, and treatment of rare diseases in India.

Key Features of NPRD 2021:

• 63 rare diseases currently included under the policy (as recommended by the Central Technical Committee for Rare Diseases (CTCRD)).
• Categorization of diseases into three groups:
  • Group 1: Diseases amenable to one-time curative treatment.
  • Group 2: Diseases requiring long-term/lifelong treatment with relatively lower cost.
  • Group 3: Diseases requiring very high-cost lifelong therapy where patient selection is critical.

Institutional Support:

• 12 Centres of Excellence (CoEs) identified at premier government hospitals to provide diagnosis and treatment.
• Nidan Kendras established to provide genetic testing and counselling services.
• National Consortium for Research and Development on Therapeutics for Rare Diseases (NCRDTRD) set up to coordinate R&D and promote indigenous drug manufacturing.
• Tax exemptions (on GST and Customs Duty) granted for imported drugs for individual and institutional use.

Financial Provisions:

• Financial assistance of up to ?50 lakh per patient for treatment at CoEs.
• Patients must register at CoEs to receive diagnosis and initiate treatment.

Challenges and Crisis

Despite policy provisions, implementation has been stalled, leading to a healthcare emergency for rare disease patients.

Key Issues Raised:      

• Insufficient funding: The ?50 lakh cap is inadequate for chronic and ultra-rare diseases that need lifelong therapy.
• Administrative delays: Fund disbursement to CoEs has been slow, disrupting continuity of treatment.
• Impact on Patients:
  • Patients like Alishba Khan, Ashok Kumar, Imran Ghoshi, and Adrija Mudy with Gaucher or MPS I have exhausted their funding.
  • Patients who had previously stabilized are now regressing due to interrupted therapy at leading hospitals like AIIMS Delhi, IGICH Bangalore, and IPGMER Kolkata.

Legal Developments:

• On October 4, 2024, the Delhi High Court directed the Ministry of Health and Family Welfare to:
  • Release additional funds beyond the ?50 lakh limit.
  • Create a ?974 crore National Fund for FY 2024–25 and 2025–26.
• Months later, no concrete action has been taken, further eroding trust in the policy's effectiveness.

Demands by Advocacy Groups

• Sustainable, long-term funding model for lifelong treatment of rare and ultra-rare diseases.
• Immediate fund release to CoEs and simplification of administrative processes.
• Ensure uninterrupted access to essential therapies and expand the scope of financial support.