Rare diseases are medical conditions that affect a small percentage of the population, often leading to severe, chronic, and life-threatening complications. While each rare disease affects only a limited number of individuals, collectively, they impact millions worldwide. These conditions are frequently genetic in origin, though they can also result from infections, environmental factors, or unknown causes.
- 1 in 20 Indians is affected by one of these rare diseases.
- Over 70 million people are affected in India.
- About 80% of rare diseases are genetic in origin, with many being monogenic.
- 50% of rare diseases onset at birth, while the rest are late onset.
National Policy for Rare Diseases (NPRD)
The Government of India introduced the National Policy for Rare Diseases (NPRD) to provide support for patients and improve rare disease management.
- Financial Assistance: The policy offers financial support for the treatment of certain rare diseases, particularly those requiring one-time curative therapies.
- Strengthening Centers of Excellence (CoEs): NPRD designates specialized hospitals to provide advanced care and diagnostic support for rare diseases.
- Encouraging Research and Development: The policy promotes research into new treatments, with a focus on indigenous and cost-effective therapies.
- Creating a Patient Registry: Establishing a database to improve understanding, facilitate research, and aid in policymaking for rare diseases.
- Enhancing Public Awareness: NPRD emphasizes awareness programs to educate healthcare professionals and the general public about rare diseases.
The commonly reported diseases include Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, Fabry disease, etc.), small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias, etc.), Cystic Fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies and spinal muscular atrophy, etc.
Existing Classification of Rare Diseases Under NPRD
Group 1
Disorders that require one-time curative treatment (e.g., Lysosomal Storage Disorders treatable with hematopoietic stem cell transplant).
Group 2
Diseases requiring long-term or lifelong treatment but where definitive treatment is available (e.g., Gaucher’s disease, Pompe disease, and certain neuromuscular disorders).
Group 3
Diseases with no definitive treatment but requiring supportive care (e.g., advanced-stage genetic disorders).
Criteria for Including a New Rare Disease in NPRD
National Policy for Rare Diseases
63 rare diseases are included under the National Policy for Rare Diseases on recommendation of the Central Technical Committee for Rare Diseases (CTCRD). Financial support of up to Rs. 50 lakhs per patient is provided for treatment at the notified Centres of Excellence (CoEs).
Since the policy launch, 1,118 patients have benefited under NPRD. Patients may visit any CoE across India as per their convenience.
List of Centres of Excellence (COE's) in India
- All India Institute of Medical Sciences, New Delhi
- Maulana Azad Medical College, New Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow
- Post Graduate Institute of Medical Education and Research, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences, Hyderabad
- King Edward Medical Hospital, Mumbai
- Institute of Post-Graduate Medical Education and Research, Kolkata
- Center for Human Genetics (CHG) with Indira Gandhi Hospital, Bengaluru
- Institute of Child Health and Hospital for Children (ICH & HC), Chennai
- All India Institute of Medical Sciences (AIIMS), Jodhpur
- Sree Avittam Thirunal Hospital (SAT), Government Medical College, Thiruvananthapuram
- All India Institute of Medical Sciences, Bhopal
- Regional Institute of Medical Sciences (RIMS), Imphal, Manipur