The Missing Links in Government’s Efforts To Tackle Rare Diseases

India commemorated Rare Disease Day 2025 on February 28, emphasizing the need for better policies and patient care.

National Policy for Rare Diseases (NPRD) 2021

• About: The National Policy for Rare Diseases (NPRD) 2021 was introduced after decades of advocacy, providing a framework for treatment and support.
• Efforts: A network of 12 Centres of Excellence (CoEs) across 11 states was established to treat eligible patients.

Challenges in Implementation

• Lack of Funding: Treatment for rare diseases is extremely expensive, making access difficult for most patients. No structured funding mechanism exists to support long-term care.
  • One-time financial assistance of ₹50 lakh for LSD patients is inadequate.
  • Nearly 40 LSD patients have exhausted this support, leaving them without treatment.
  • 30% of children with rare disorders die before their fifth birthday due to lack of treatment.
• Gaps in Access: India has over 450 rare diseases, but treatment is available for less than 50% of them. Lysosomal Storage Disorders (LSDs) are classified under Group 3 (a) disorders, requiring lifelong management.
• Implementation Roadblocks: The Drugs Controller General of India (DCGI) has approved Enzyme Replacement Therapy (ERT) as an effective treatment.
  • MoHFW empanelled 12 CoEs to treat rare disease patients, with 577 LSD patients registered for immediate treatment.
• Lack of structured Monitoring: Despite available therapy and funding, only a fraction of patients receive treatment due to a lack of structured monitoring.
• Delays: Delays in institutional interventions persist despite parliamentary backing.
• Non-Utilization of Funds: ₹143.19 crore sanctioned to 12 CoEs by MoHFW remains underutilized, delaying access to therapies. Lack of accountability and transparency at CoEs exacerbates inefficiencies.
• Exclusion : Conditions like Acid Sphingomyelinase Deficiency (ASMD) are not covered under NPRD 2021, despite clinically approved therapies.
  • 32 ASMD patients in India remain without government funding.

Way Forward

• Sustainable Funding: Establish a dedicated rare disease fund exceeding the current ₹50 lakh limit. Ensure continuous financial assistance for long-term treatments.
• National Programme on Rare Diseases: Implement the ₹974-crore initiative under NPRD 2021 to close treatment gaps. Prioritize children, especially those with LSDs, for timely intervention.
• Equitability: Expedite fund disbursal to CoEs to prevent treatment delays. Implement streamlined operations at CoEs for faster patient care.
• Strengthen Implementation:  Establish a robust monitoring system to track fund utilization and patient treatment. Create an independent oversight body with real-time tracking for accountability.

Conclusion

Urgent reforms are needed to ensure that rare disease patients receive consistent, timely, and equitable access to life-saving treatments. Delays in policy execution equate to denying patients their right to life, particularly innocent children who deserve a future free from uncertainty.