PREVALENCE RATE OF RARE DISEASE IN INDIA WITH SPECIAL FOCUS ON PAEDIATRIC RARE DISEASES AND CHALLENGES AND LIMITATIONS IN DRUG DEVELOPMENT AND TREATMENT.
R. Aarthy
, Dr. Nidhi Bais
Rare diseases, Pediatrics, Spinal muscular atrophy, NDCTR 2019, NPRD 2021, India
Background: Pediatric rare diseases, though individually uncommon, collectively represent a significant public health challenge in India. The majority are genetic, progressive, and life limiting, with limited treatment options and high costs. Recent regulatory reforms, including the New Drugs and Clinical Trials Rules (NDCTR) 2019 and the National Policy for Rare Diseases (NPRD) 2021, aim to improve access to orphan drugs. However, the extent of clinician awareness and the real world impact of these policies remain unclear.
Objective: To assess healthcare professionals’ awareness of pediatric rare diseases, familiarity with India’s regulatory framework and perceived barriers to diagnosis and treatment access.
Methods: A descriptive, cross sectional survey was conducted among 50 healthcare professionals across five Indian states. A structured questionnaire captured demographic data, disease recognition patterns, knowledge of NDCTR 2019 and NPRD 2021 provisions, and perceived challenges in patient management. Quantitative data were analysed descriptively; qualitative responses underwent thematic analysis.
Results: While 92% of respondents were aware of the rare disease concept, only 46% knew of the ₹50 lakh funding cap under NPTRD 2021, and 40% were aware of GST/customs duty exemptions. Spinal muscular atrophy (48%) and Duchenne muscular dystrophy (36%) were the most recognized conditions. Between 2021 and 2025, approximately 90 Indian children received Zolgensma through accelerated import permissions, compassionate use programs, and crowdfunding.
Conclusion: Regulatory reforms have improved therapeutic availability, but policy literacy and sustainable financing remain critical challenges. Strengthening clinician education, expanding newborn screening, and developing innovative funding models are essential to bridge the gap between policy and practice.
"PREVALENCE RATE OF RARE DISEASE IN INDIA WITH SPECIAL FOCUS ON PAEDIATRIC RARE DISEASES AND CHALLENGES AND LIMITATIONS IN DRUG DEVELOPMENT AND TREATMENT.", IJSDR - International Journal of Scientific Development and Research (www.IJSDR.org), ISSN:2455-2631, Vol.10, Issue 9, page no.b1-b6, September-2025, Available :https://ijsdr.org/papers/IJSDR2509101.pdf
Volume 10
Issue 9,
September-2025
Pages : b1-b6
Paper Reg. ID: IJSDR_304959
Published Paper Id: IJSDR2509101
Downloads: 00071
Research Area: Science and Technology
Country: -, -, India
ISSN: 2455-2631 | IMPACT FACTOR: 9.15 Calculated By Google Scholar | ESTD YEAR: 2016
An International Scholarly Open Access Journal, Peer-Reviewed, Refereed Journal Impact Factor 9.15 Calculate by Google Scholar and Semantic Scholar | AI-Powered Research Tool, Multidisciplinary, Monthly, Multilanguage Journal Indexing in All Major Database & Metadata, Citation Generator
Publisher: IJSDR(IJ Publication) Janvi Wave
